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Levent Sennaroğlu - One of the best experts on this subject based on the ideXlab platform.
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A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and Inner Ear Malformation in a deaf child.
American journal of medical genetics. Part A, 2020Co-Authors: Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-konuk, Suat Fitoz, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.
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bimodal stimulation in children with Inner Ear Malformation one side cochlEar implant and contralateral auditory brainstem implant
Clinical Otolaryngology, 2020Co-Authors: Merve Ozbal Batuk, Betul Cicek Cinar, Gonca Sennaroglu, Mehmet Yarali, Filiz Aslan, Hilal Burcu Ozkan, Esra Yucel, Munir Demir Bajin, Burcak Bilginer, Levent SennaroğluAbstract:OBJECTIVE: To determine audiological outcomes of children who use a cochlEar implant (CI) in one Ear and an auditory brainstem implant (ABI) in the contralateral Ear. DESIGN: Retrospective case review. SETTING: Tertiary referral hospital. PARTICIPANTS: Twelve children followed with CI and contralateral auditory brainstem implant (ABI) by Hacettepe University Department of Otorhinolaryngology and Audiology in Turkey. All children were diagnosed with different Inner Ear Malformations with cochlEar nerve aplasia/hypoplasia. CI was planned in the Ear with better sound detection during behavioural testing with inserted Ear phones and with better CN as seen on MRI. Due to the limited auditory and speech progress with the cochlEar implant, ABI was performed on the contralateral Ear in all subjects. MAIN OUTCOME MEASURES: Audiological performance and auditory perception skills of children with cochlEar nerve deficiency (CND) who use bimodal electrical stimulation with CI and contralateral ABI. RESULTS: Mean age of the subjects was 84.00 +/- 33.94 months. Age at CI surgery and ABI surgery was 25.00 +/- 10.98 months and 41.50 +/- 16.14 months, respectively. However, hEaring thresholds only with CI and only with ABI did not reveal significant difference, and auditory perception scores improved with bimodal stimulation. The MAIS scores were significantly improved from unilateral CI to bimodal stimulation (P = .002). Pattern perception and word recognition scores were significantly higher with the bimodal condition when compared to CI only and ABI only conditions. CONCLUSION: Children with CND showed better performance with CI and contralateral ABI combined. Depending on the audiological and radiological results, bimodal stimulation should be advised for children with CND.
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Wideband tympanometry findings in Inner Ear Malformations
Auris Nasus Larynx, 2019Co-Authors: Şule Kaya, Betul Cicek Cinar, Gonca Sennaroglu, Merve Ozbal Batuk, Burce Ozgen, Gülsüm Aydan Genç, Levent SennaroğluAbstract:Abstract Objective The deficits in the cochlea which is at the one end of the Ear sound transfer system, may effect middle Ear functions. Wideband typanometry (WBT) is frequently used to evaluate these transfer functions which play a crucial role in setting the impedance matching between the external Ear and the cochlea. To this end, the aim of this study was to investigate the Ear transfer functions in Inner Ear Malformations via WBT, and to question whether these functions change depending on the types of Inner Ear Malformation. Methods This prospective case-control study was conducted in a university hospital. One hundered-fifty-seven Ears (aged 3–37 yEars) under the groups of cochlEar hypoplasia, incomplete partition I, incomplete partition II, cochlEar aplasia and complete labyrinthine aplasia were evaluated. In the control group, 30 Ears with normal hEaring were enrolled and WBT was carried out. Tympanometric peak pressure, equivalent middle Ear volume, static admittance, tympanogram width, resonance frequency, average wideband tympanometry and absorbance measurements were analyzed. Results The Inner Ear Malformation groups demonstrated statistically significant differences than the control group and from each other in terms of traditional tympanometric parameters and WBT test parameters (p Conclusion The results of the study revealed the distinctive effects of Inner Ear Malformations in middle Ear transfer functions. It is concluded that the absence of Inner Ear structures causes negative effects on energy absorbance and the other transfer functions of the middle Ear. WBT may provide additional information on diagnosis of patients with Inner Ear Malformations.
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The role of eABR with intracochlEar test electrode in decision making between cochlEar and brainstem implants: preliminary results
European Archives of Oto-Rhino-Laryngology, 2017Co-Authors: Betul Cicek Cinar, Gonca Sennaroglu, Mehmet Yarali, Munir Demir Bajin, Gamze Atay, Levent SennaroğluAbstract:The objective of the study was to discuss the findings of intraoperative electrically evoked auditory brainstem response (eABR) test results with a recently designed intracochlEar test electrode (ITE) in terms of their relation to decisions of cochlEar or auditory brainstem implantation. This clinical study was conducted in Hacettepe University, Department of Otolaryngology, Head and Neck Surgery and Department of Audiology. Subjects were selected from Inner Ear Malformation (IEM) database. Eleven subjects with profound sensorineural hEaring loss were included in the current study with age range from 1 yEar 3 months to 4 yEars 3 months for children with prelingual hEaring loss. There was only one 42-yEar-old post-lingual subject. eABR was recorded with an ITE and intraoperatively with an original cochlEar implant (CI) electrode in 11 cases with different IEMs. Findings of eABR with ITE and their relation to the decision for CI or auditory brainstem implant (ABI) are discussed. Positive eABR test results were found to be dependent on close to normal cochlEar structures and auditory nerve. The probability of positive result decreases with increasing degree of Malformation severity. The prediction value of eABR via ITE on decision for hEaring restoration was found to be questionable in this study. The results of eABR with ITE have predictive value on what we will get with the actual CI electrode. ITE appEars to stimulate the cochlea like an actual CI. If the eABR is positive, the results are reliable. However, if eABR is negative, the results should be evaluated with preoperative audiological testing and MRI findings.
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Long-term Results of ABI in Children With Severe Inner Ear Malformations.
Otology & Neurotology, 2016Co-Authors: Levent Sennaroğlu, Gonca Sennaroglu, Filiz Aslan, Esra Yucel, Burcak Bilginer, Gamze Atay, Bajin, Burce Ozgen Mocan, Yaral M, Çnar BçAbstract:To report the long-term outcomes of children who received auditory brainstem implant (ABI) because of severe Inner Ear Malformations.Retrospective chart review.Tertiary referral otolaryngology clinic.Between July 2006 and October 2014, 60 children received ABI at Hacettepe University. Preoperative work up included otolaryngologic examination, audiological assessment, radiological evaluation together with assessment of language development and psychological status. The surgeries were performed via retrosigmoid approach with a pediatric neurosurgeon. Intraoperatively, electrical auditory brainstem response was utilized. Initial stimulation was done 4 to 5 weeks postoperatively. Outcomes were evaluated with Categories of Auditory Performance (CAP), speech intelligibility rate (SIR), functional auditory performance of cochlEar implant (FAPCI) and Manchester Spoken Language Development Scale scores; receptive and expressive language ages were determined.Sixty children who received ABI were between ages of 12 and 64 months. Thirty-five patients with follow up period of at least 1 yEar, were reported in means of long-term audiological and language results. The most prevelant Inner Ear Malformation was cochlEar hypoplasia (n = 19). No major complication was encountered. Majority of the patients were in CAP 5 category, which implies that they can understand common phrases without lip reading. SIR was found out to be better with improving hEaring thresholds. Children with ABI were performing worse than average cochlEar implantation (CI) users when FAPCI scores were compared. Patients with the best hEaring thresholds have expressive vocabulary of 50 to 200 words when evaluated with Manchester Spoken Language Development Scale. There was no relationship between the number of active electrodes and hEaring thresholds. The type of Inner Ear anomaly with the best and the worst hEaring thresholds were common cavity and cochlEar aperture aplasia, respectively. Patients with additional handicaps had worse outcomes. Among 35 children, 29 had closed set discrimination and 12 developed open set discrimination above 50%. It was determined that, progress of the patients is faster in the initial 2 yEars when compared with further use of ABI.ABI is an acceptable and effective treatment modality for pediatric population with severe Inner Ear Malformations. Bilateral stimulation together with CI and contralateral ABI should be utilized in suitable cases.
Mustafa Tekin - One of the best experts on this subject based on the ideXlab platform.
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A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and Inner Ear Malformation in a deaf child.
American journal of medical genetics. Part A, 2020Co-Authors: Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-konuk, Suat Fitoz, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.
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a fgf3 mutation associated with differential Inner Ear Malformation microtia and microdontia
Laryngoscope, 2009Co-Authors: Reinhard Ramsebner, Mustafa Tekin, Filiz Basak Cengiz, Martin Ludwig, Thomas Parzefall, Trevor Lucas, Wolf Dieter Baumgartner, Olaf Bodamer, Christian SchoeferAbstract:Objectives/Hypothesis: Analysis of association between genotype and phenotype. Study Design: Prospective genetic study in a family. Methods: Auditory investigations, computer tomography, and genetic sequencing of the fibroblast growth factor 3 (FGF3) gene were performed on a Somali family presenting with autosomal recessive, hEaring impairment, microdontia, and outer Ear morphologies ranging from normal auricle development to microtia assessed as type 1 Weerda dysplasia in affected individuals. Results: Computed tomography imaging identified differential inter- and intraindividual Malformations of the Inner Ear including labyrinth aplasia, development of a common cavity to the presence of a cochlEar with 1.5 windings (Mondini Malformation) in affected individuals, symptoms similar to those described as labyrinth aplasia, microtia, and microdontia (LAMM) syndrome, caused by mutations in FGF3. Genetic sequencing revealed the presence of a novel p.R95W missense mutation in FGF3 segregating with pathology. The p.R95W mutation substitutes a positively charged arginine for a polar tryptophan in the highly conserved RYLAM consensus of the β6 sheet of FGF3 that interacts with FGFR2. Conclusions: These findings describe, for the first time, variable Inner Ear Malformations and outer Ear dysplasia in the presence of constant microdontia, associated with homozygous inheritance of the p.R95W mutation in FGF3, mirroring phenotypes observed in mouse models ablating FGF3/FGFR2 signaling. Laryngoscope, 2010
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a complex tfap2a allele is associated with branchio oculo facial syndrome and Inner Ear Malformation in a deaf child
American Journal of Medical Genetics Part A, 2009Co-Authors: Mustafa Tekin, Asli Sirmaci, Suat Fitoz, Berrin Yukselkonuk, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucletiodes, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. © 2009 Wiley-Liss, Inc.
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A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and Inner Ear Malformation in a deaf child
American Journal of Medical Genetics Part A, 2009Co-Authors: Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-konuk, Suat Fitoz, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucletiodes, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. © 2009 Wiley-Liss, Inc.
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slc26a4 mutations are associated with a specific Inner Ear Malformation
International Journal of Pediatric Otorhinolaryngology, 2007Co-Authors: Suat Fitoz, Levent Sennaroğlu, Armagan Incesulu, Filiz Basak Cengiz, Mustafa TekinAbstract:Summary Background and aim Inner Ear anomalies have been reported in approximately 30% of children with Early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the Inner Ear anomalies associated with SLC26A4 mutations. Methods The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of Inner Ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA. None of the patients was diagnosed to have a recognizable genetic syndrome. Additional four patients with Pendred syndrome from three families were included. Results Only one patient with EVA was found to have a heterozygous mutation (c.1586delT) in SLC26A4 . All patients with Pendred syndrome had homozygous mutations and were noted to have either EVA or EVA associated with incomplete partition-II on the computed tomography of the temporal bone. Conclusion SLC26A4 mutations are not associated with a large spectrum of Inner Ear anomalies. They, instead, result in a specific morphological appEarance consistent with EVA or incomplete partition-II.
Yasushi Kaji - One of the best experts on this subject based on the ideXlab platform.
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narrow duplicated internal auditory canal a rare Inner Ear Malformation with sensorineural hEaring loss
Archives of Otolaryngology-head & Neck Surgery, 2009Co-Authors: Tatsuo Kono, Shigeko Kuwashima, Hiroaki Arakawa, Erena Yamazaki, Kazuhiro Kitajima, Yasuo Ejima, Tsutomu Ishikawa, Teisuke Hashimoto, Yasushi KajiAbstract:Anarrow duplicated internal auditory canal (IAC) is a very rare congenital Inner Ear Malformation, with only 5 cases (to our knowledge) reported in the literature. 1-5 A 14-yEar-old girl with unilateral sensorineural hEaring loss (SNHL) showed 2 narrow 1 mm) bony canals in the Inner Ear portion of the left temporal bone on computed tomograms (CTs). The anterior canal continued to the bony canal of the facial nerve, and the posterior canal continued to the cochlea. Other than a lack of development of the canal for the cochlEar nerve, the cochlea was normal. High-resolution magnetic resonance images (MRIs) revealed a single thin cranial nerve located in the anterior canal. However, a cranial nerve was not found in the posterior canal. Therefore, a diagnosis of a unilateral narrow duplicated IAC with a hypoplastic vestibulocochlEar nerve and vestibular-semicircular canal Malformation was made. Computed tomography plays an important role in the evaluation of the bony structure; however, assessment of the neural contents on MRIs is important for the appropriate diagnosis and treatment of patients with a narrow duplicated IAC. We report a case of a unilateral narrow duplicated IAC, with a particular emphasis on the imaging findings of thin-slice high-resolution CTs and MRIs.
Kimitaka Kaga - One of the best experts on this subject based on the ideXlab platform.
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electrically evoked abr during cochlEar implantation and postoperative development of speech and hEaring abilities in infants with common cavity deformity as a type of Inner Ear Malformation
Acta Oto-laryngologica, 2020Co-Authors: Kimitaka Kaga, Shujiro Minami, Chieko EnomotoAbstract:Background: The electrically evoked auditory brainstem response (eABR) during cochlEar implantation in common cavity (CC) deformity has not been clinically well studied.Aim/Objective: To investigat...
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development of vestibular ocular reflex and gross motor function in infants with common cavity deformity as a type of Inner Ear Malformation
Acta Oto-laryngologica, 2019Co-Authors: Kimitaka Kaga, Yusuke Kimura, Shujiro MinamiAbstract:AbstractBackground： The function of common cavity deformity demonstrated by temporal bone CT and MRI has been unknown.Aim/Objective: To investigate the developmental changes of vestibular ocular reflex and acquisition of postural control in infants with common cavity deformity.Material and methods: Eight infants who were congenitally deaf complicated by common cavity deformity were studied. The damped rotational chair test was carried out to evaluate vestibular ocular reflex. Acquisition of head control and independent walking in these infants was compared with that in normal infant’s milestones of gross motor development.Results: All of the eight infants with common cavity deformity did not show per-rotatory nystagmus in the damped rotational chair test around the first yEar of life. However, a normal number of beats and a longer duration of per-rotatory nystagmus for their age were recorded at around three or four yEars of age.Conclusions and significance: In the eight infants with common cavity deformi...
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A child with severe Inner Ear Malformations with favorable hEaring utilization and balance functions after wEaring hEaring aids
Journal of otology, 2017Co-Authors: Yusuke Kimura, Takeshi Masuda, Akifumi Tomizawa, Hideaki Sakata, Kimitaka KagaAbstract:Abstract Infants with congenital deafness caused by severe bilateral Inner Ear Malformations frequently suffer from severe hEaring loss and poor balance. Unfortunately, the use of hEaring aids is usually ineffective in recovering hEaring, necessitating cochlEar implants. We report a case of a 6-yEar-old boy with congenital deafness and bilateral Inner Ear Malformations (right side, incomplete partition type I [IP-I]; left side, common cavity deformity). HEaring aids had a remarkable effect in this patient, enabling sufficient and favorable hEaring recovery such as to allow the patient to engage in daily conversations. Per-rotatory nystagmus was recorded on an electronystagmogram for both right and left rotations in a damped rotational chair test. It is rare for deaf children with severe bilateral Inner Ear Malformation to demonstrate favorable development in hEaring and good equilibrium function. Our findings suggest that auditory–vestibular hair cells in this patient may have been partially preserved despite IP-I in the right Ear and common cavity deformity of the left Ear.
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vestibular development of children with Inner Ear Malformation and cochlEar nerve deficiency
2017Co-Authors: Takeshi Masuda, Kimitaka KagaAbstract:Motor development in children with Inner Ear Malformation or cochlEar nerve deficiency (CND) is often delayed. A reason for delayed head control and independent walking may be the loss of muscle from the vestibule, and, thus, sufficient tension cannot be maintained. A total of 12 children with bilateral Inner Ear Malformation and 4 children with bilateral CND were studied. The development of head control and independent walking in all of the children with bilateral Inner Ear Malformation and bilateral CND was delayed. For evaluation of vestibular function, a damped-rotational chair test was performed, and the horizontal nystagmus was recorded by using an electronystagmography (ENG). These 10 of 12 children with bilateral Inner Ear Malformation and two of four children with bilateral CND showed reduced response to the rotational chair test at the initial time. The follow-up examination performed in all of the children with bilateral Inner Ear Malformation whose vestibular function appEared was compared with the initial examination. The development of motor function in children with bilateral Inner Ear Malformation and CND is related with not only central compensation but also vestibular development.
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eabr of Inner Ear Malformation and cochlEar nerve deficiency after cochlEar implantation in children
2017Co-Authors: Shujiro Minami, Kimitaka KagaAbstract:When cochlEar implantation has been performed in a case involving Inner Ear Malformations, it is particularly important to perform objective physiological measurements of the cochlEar implant. The Inner Ear Malformations can be divided into categories according to the observation of modiolus deficiency and/or cochlEar nerve deficiency (CND). CND severity can be categorized in one of three ways, according to the MRI findings: (1) a hypoplastic cochlEar nerve, (2) the absence of cochlEar nerve, and (3) the absence of vestibulocochlEar nerve. EABR is a reliable and effective way of objectively confirming device function and implant responsiveness of the peripheral auditory neurons up to the level of the brainstem in cases of Inner Ear Malformation. EABR can often be recorded in cases in which the presence of excessive stimulus artifacts precludes the successful acquisition of ECAP, such as in cases with modiolus deficiency cochlea. This chapter presents cases with or without modiolus deficiency, depending on the severity of cochlEar nerve deficiency, and describes their EABR characteristics. Vestibular simulated EABR is also shown, demonstrating the interactions between vestibular and auditory pathways.
Suat Fitoz - One of the best experts on this subject based on the ideXlab platform.
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A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and Inner Ear Malformation in a deaf child.
American journal of medical genetics. Part A, 2020Co-Authors: Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-konuk, Suat Fitoz, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.
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a complex tfap2a allele is associated with branchio oculo facial syndrome and Inner Ear Malformation in a deaf child
American Journal of Medical Genetics Part A, 2009Co-Authors: Mustafa Tekin, Asli Sirmaci, Suat Fitoz, Berrin Yukselkonuk, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucletiodes, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. © 2009 Wiley-Liss, Inc.
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A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and Inner Ear Malformation in a deaf child
American Journal of Medical Genetics Part A, 2009Co-Authors: Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-konuk, Suat Fitoz, Levent SennaroğluAbstract:We present a 4-yEar-old girl with congenital profound sensorineural deafness associated with Inner Ear Malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucletiodes, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. © 2009 Wiley-Liss, Inc.
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slc26a4 mutations are associated with a specific Inner Ear Malformation
International Journal of Pediatric Otorhinolaryngology, 2007Co-Authors: Suat Fitoz, Levent Sennaroğlu, Armagan Incesulu, Filiz Basak Cengiz, Mustafa TekinAbstract:Summary Background and aim Inner Ear anomalies have been reported in approximately 30% of children with Early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the Inner Ear anomalies associated with SLC26A4 mutations. Methods The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of Inner Ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA. None of the patients was diagnosed to have a recognizable genetic syndrome. Additional four patients with Pendred syndrome from three families were included. Results Only one patient with EVA was found to have a heterozygous mutation (c.1586delT) in SLC26A4 . All patients with Pendred syndrome had homozygous mutations and were noted to have either EVA or EVA associated with incomplete partition-II on the computed tomography of the temporal bone. Conclusion SLC26A4 mutations are not associated with a large spectrum of Inner Ear anomalies. They, instead, result in a specific morphological appEarance consistent with EVA or incomplete partition-II.