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Aicardi Syndrome

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V. Reid Sutton – One of the best experts on this subject based on the ideXlab platform.

  • Aicardi Syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination
    American journal of medical genetics. Part C Seminars in medical genetics, 2018
    Co-Authors: Bibiana K. Y. Wong, V. Reid Sutton
    Abstract:

    Aicardi Syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi Syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. It is now recognized that individuals with Aicardi Syndrome commonly exhibit a variety of other neuronal migration defects, eye anomalies, and other somatic features, including skin, skeletal, and craniofacial systems. The etiology of Aicardi Syndrome remains unknown despite an international effort exploring different genetic mechanisms. Although various technologies examining candidate genes, copy number variation, skewing of X-chromosome inactivation, and whole-exome sequences have been explored, no strong genetic candidates have been identified to date. New technologies that can detect low-level mosaicism and balanced rearrangements, as well as platforms examining changes at the DNA and chromatin level affecting regulatory regions are all potential avenues for future studies that may one day solve the mystery of the etiology of Aicardi Syndrome.

  • Ophthalmologic findings in Aicardi Syndrome
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012
    Co-Authors: Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van Den Veyver, Richard A. Lewis
    Abstract:

    Background Aicardi Syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi Syndrome. Methods A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi Syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. Results The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). Conclusions Although the ophthalmic hallmark and defining feature of Aicardi Syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

  • A genome-wide screen for copy number alterations in Aicardi Syndrome.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Xiaoling Wang, Richard A. Lewis, Tanya N. Eble, V. Reid Sutton, Preethi H. Gunaratne, Ankita Patel, Ignatia B. Van Den Veyver
    Abstract:

    Aicardi Syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi Syndrome by high-resolution, genome-wide array comparative genomic hybrhybridization for copy number gains and losses. We found 110 copy number variants (CNVs), 97 of which are known, presumably polymorphic, CNVs; 8 have been seen before in unrelated studies in unaffected individuals. Four previously unseen CNVs on autosomes were each inherited from a healthy parent. One subject with Aicardi Syndrome had a de novo loss of X-linked copy number in a region without known genes. Detailed analysis of this and flanking regions did not reveal CNVs or mutations in annotated genes in other affected subjects. We conclude that, in this study population of 38 subjects, Aicardi Syndrome is not caused by CNVs detectable with the high-resolution array platform that was used.

Ignatia B. Van Den Veyver – One of the best experts on this subject based on the ideXlab platform.

  • Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi Syndrome patients.
    Molecular genetics & genomic medicine, 2017
    Co-Authors: Bibiana K. Y. Wong, Richard A. Lewis, Vernon R. Sutton, Ignatia B. Van Den Veyver
    Abstract:

    BACKGROUND Aicardi Syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi Syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi Syndrome may be genetically heterogeneous. METHODS To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well-characterized girls with Aicardi Syndrome. RESULTS We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. CONCLUSIONS This suggests that the published variants represent either an extremely rare cause of Aicardi Syndrome or an incidental finding.

  • Ophthalmologic findings in Aicardi Syndrome
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012
    Co-Authors: Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van Den Veyver, Richard A. Lewis
    Abstract:

    Background Aicardi Syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi Syndrome. Methods A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi Syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. Results The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). Conclusions Although the ophthalmic hallmark and defining feature of Aicardi Syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

  • A genome-wide screen for copy number alterations in Aicardi Syndrome.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Xiaoling Wang, Richard A. Lewis, Tanya N. Eble, V. Reid Sutton, Preethi H. Gunaratne, Ankita Patel, Ignatia B. Van Den Veyver
    Abstract:

    Aicardi Syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi Syndrome by high-resolution, genome-wide array comparative genomic hybridization for copy number gains and losses. We found 110 copy number variants (CNVs), 97 of which are known, presumably polymorphic, CNVs; 8 have been seen before in unrelated studies in unaffected individuals. Four previously unseen CNVs on autosomes were each inherited from a healthy parent. One subject with Aicardi Syndrome had a de novo loss of X-linked copy number in a region without known genes. Detailed analysis of this and flanking regions did not reveal CNVs or mutations in annotated genes in other affected subjects. We conclude that, in this study population of 38 subjects, Aicardi Syndrome is not caused by CNVs detectable with the high-resolution array platform that was used.

C. Nemos – One of the best experts on this subject based on the ideXlab platform.

  • Molecular characterization of a monosomy 1p36 presenting as an Aicardi Syndrome phenocopy.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Anne-claire Bursztejn, Myriam Bronner, Sylviane Peudenier, Marie-josé Grégoire, Philippe Jonveaux, C. Nemos
    Abstract:

    Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion Syndrome. Aicardi Syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenagenesis and infantile spasms responsible for mental retardation. By screening DNA from diagnosed AIS patients with oligonucleotide array-based comparative genomic hybrhybridization (aCGH), we report a 1p36 monosomy in this study. There were no other deletions or duplications. Regarding clinical criteria, the patient did not have the typical facial appearance commonly described for 1p36 monosomy patients. We showed that this 1p36 monosomy corresponded to combined interstitial and terminal de novo deletions of the chromosome 1 leading to an 11.73 Mb deletion confirmed with qPCR. By microsatellite markers and FISH analyses, we have concluded that this deletion occurred on maternal chromosome 1 during oogenesis. We did find some clinical features shared by the 1p36 monosomy and AIS: infantile spasms, corpus callosum dysgenesis, ophthalmological abnormalities, and skeletal malformations. To date, no relationship between these two phenotypes has been established. We conclude that the monosomy 1p36 should be considered in the differential diagnosis of AIS. © 2009 Wiley-Liss, Inc.

  • screening of subtle copy number changes in Aicardi Syndrome patients with a high resolution x chromosome array cgh
    European Journal of Medical Genetics, 2007
    Co-Authors: Saliha Yilmaz, C. Nemos, Marie-josé Grégoire, Herve Fontaine, Karene Brochet, Mariedominique Devignes, Jeanluc Schaff, Christophe Philippe, J L Mcgregor, Philippe Jonveaux
    Abstract:

    Aicardi Syndrome (AIC) is an uncommon neurodevelopmental disorder affecting almost exclusively females. Chief features include infantile spasms, corpus callosal agenesis, and chorioretinal abnormalities. AIC is a sporadic disorder and hypothesized to be caused by heterozygous mutations in an X-linked gene but up to now without any defined candidate region on the X chromosome. Array based comparative genomic hybridisation (array-CGH) has become the method of choice for the detection of microdeletions and microduplications at high resolution. In this study, for the first time, 18 AIC patients were analyzed with a full coverage X chromosomal BAC arrays at a theoretical resolution of 82 kb. Copy number changes were validated by real-time quantitation (qPCR). No disease associated aberrations were identified. For such conditions as AIC, in which there are no familial cases, additional patients should be studied in order to identify rare cases with submicroscopic abnormalities, and to pursue a positional candidate gene approach.

Tanya N. Eble – One of the best experts on this subject based on the ideXlab platform.

  • Ophthalmologic findings in Aicardi Syndrome
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012
    Co-Authors: Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van Den Veyver, Richard A. Lewis
    Abstract:

    Background Aicardi Syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi Syndrome. Methods A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi Syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. Results The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). Conclusions Although the ophthalmic hallmark and defining feature of Aicardi Syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

  • A genome-wide screen for copy number alterations in Aicardi Syndrome.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Xiaoling Wang, Richard A. Lewis, Tanya N. Eble, V. Reid Sutton, Preethi H. Gunaratne, Ankita Patel, Ignatia B. Van Den Veyver
    Abstract:

    Aicardi Syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi Syndrome by high-resolution, genome-wide array comparative genomic hybridization for copy number gains and losses. We found 110 copy number variants (CNVs), 97 of which are known, presumably polymorphic, CNVs; 8 have been seen before in unrelated studies in unaffected individuals. Four previously unseen CNVs on autosomes were each inherited from a healthy parent. One subject with Aicardi Syndrome had a de novo loss of X-linked copy number in a region without known genes. Detailed analysis of this and flanking regions did not reveal CNVs or mutations in annotated genes in other affected subjects. We conclude that, in this study population of 38 subjects, Aicardi Syndrome is not caused by CNVs detectable with the high-resolution array platform that was used.

  • Non-random X chromosome inactivation in Aicardi Syndrome
    Human Genetics, 2009
    Co-Authors: Tanya N. Eble, Richard A. Lewis, V. Reid Sutton, Haleh Sangi-haghpeykar, Xiaoling Wang, Ping Fang, Ignatia B. Van Den Veyver
    Abstract:

    Most females have random X-chromosome inactivation (XCI), defined as an equal likelihood for inactivation of the maternally- or paternally-derived X chromosome in each cell. Several X-linked disorders have been associated with a higher prevalence of non-random XCI patterns, but previous studies on XCI patterns in Aicardi Syndrome were limited by small numbers and older methodologies, and have yielded conflicting results. We studied XCI patterns in DNA extracted from peripheral blood leukocytes of 35 girls with typical Aicardi Syndrome (AIC) from 0.25 to 16.42 years of age, using the human androgen receptor assay. Data on 33 informative samples showed non-random XCI in 11 (33%), defined as a >80:20% skewed ratio of one versus the other X chromosome being active. In six (18%) of these, there was a >95:5% extremely skewed ratio of one versus the other X chromosome being active. XCI patterns on maternal samples were not excessively skewed. The prevalence of non-random XCI in Aicardi Syndrome is significantly different from that in the general population ( p  

Richard A. Lewis – One of the best experts on this subject based on the ideXlab platform.

  • Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi Syndrome patients.
    Molecular genetics & genomic medicine, 2017
    Co-Authors: Bibiana K. Y. Wong, Richard A. Lewis, Vernon R. Sutton, Ignatia B. Van Den Veyver
    Abstract:

    BACKGROUND Aicardi Syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi Syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi Syndrome may be genetically heterogeneous. METHODS To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well-characterized girls with Aicardi Syndrome. RESULTS We did not detect the previously reported or any other deleterious variants in any of the analyzed samples. CONCLUSIONS This suggests that the published variants represent either an extremely rare cause of Aicardi Syndrome or an incidental finding.

  • Ophthalmologic findings in Aicardi Syndrome
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012
    Co-Authors: Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van Den Veyver, Richard A. Lewis
    Abstract:

    Background Aicardi Syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi Syndrome. Methods A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi Syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. Results The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). Conclusions Although the ophthalmic hallmark and defining feature of Aicardi Syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

  • A genome-wide screen for copy number alterations in Aicardi Syndrome.
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Xiaoling Wang, Richard A. Lewis, Tanya N. Eble, V. Reid Sutton, Preethi H. Gunaratne, Ankita Patel, Ignatia B. Van Den Veyver
    Abstract:

    Aicardi Syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the mutant gene, we screened the DNA of 38 girls with Aicardi Syndrome by high-resolution, genome-wide array comparative genomic hybridization for copy number gains and losses. We found 110 copy number variants (CNVs), 97 of which are known, presumably polymorphic, CNVs; 8 have been seen before in unrelated studies in unaffected individuals. Four previously unseen CNVs on autosomes were each inherited from a healthy parent. One subject with Aicardi Syndrome had a de novo loss of X-linked copy number in a region without known genes. Detailed analysis of this and flanking regions did not reveal CNVs or mutations in annotated genes in other affected subjects. We conclude that, in this study population of 38 subjects, Aicardi Syndrome is not caused by CNVs detectable with the high-resolution array platform that was used.