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Koray Boduroğlu - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study
    2020
    Co-Authors: Ummusen Kaya Akca, Pelin Özlem Şimşek Kiper, Koray Boduroğlu, Gizem Urel Demir, Erdal Sag, Erdal Atalay, Gulen Eda Utine, Mehmet Alikasifoglu, Yelda Bilginer, Seza Özen
    Abstract:

    Abstract BackgroundMusculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department.MethodsPatients who presented to the Department of Pediatric Rheumatology and were referred to the Pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 ± 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the Pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the Pediatric Genetics department. The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8).ConclusionsIn the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.

  • Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.

  • cathepsin k analysis in a pycnodysostosis cohort demographic genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics.

  • Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems
    Acta Medica, 2014
    Co-Authors: Mehmet Demirel, Eda Utine, Koray Boduroğlu
    Abstract:

    Smith Magenis syndrome is a rare, complex neurobehavioral genetic disor- der caused by an interstitial deletion of chromosome 17p11.2. This region in- cludes retinoic acid induced-1 (RAI-1), gene, which is responsible for most clinical features of Smith Magenis syndrome. Some patients may have a point mutation of RAI1. An 11-year-old girl with intellectual disability was re- ferred to the Pediatric Genetics department. She had a history of seizures and neurobehavioural problems including impulsivity, aggressiveness, self-injury and sleep disturbance. Ophthalmologic and cardiac examinations were nor- mal. Neurobehavioral pattern and intellectual disability was suggestive for Smith Magenis syndrome, and this was confirmed by fluorescence in situ hy- bridization (FISH), which revealed del (17) (p11.2p11.2) (RAI1-). This patient shows that facial and ophthalmological features may be absent in patients and neurobehavioral phenotype may be the prominent finding.

Ahmet Arman - One of the best experts on this subject based on the ideXlab platform.

  • Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.

  • cathepsin k analysis in a pycnodysostosis cohort demographic genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics.

Lainie Friedman Ross - One of the best experts on this subject based on the ideXlab platform.

Pelin Özlem Şimşek Kiper - One of the best experts on this subject based on the ideXlab platform.

  • Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective Study
    2020
    Co-Authors: Ummusen Kaya Akca, Pelin Özlem Şimşek Kiper, Koray Boduroğlu, Gizem Urel Demir, Erdal Sag, Erdal Atalay, Gulen Eda Utine, Mehmet Alikasifoglu, Yelda Bilginer, Seza Özen
    Abstract:

    Abstract BackgroundMusculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed to examine the final genetic diagnosis in patients who presented with musculoskeletal complaints to the rheumatology department.MethodsPatients who presented to the Department of Pediatric Rheumatology and were referred to the Pediatric genetic department between January 2015 and May 2019 were evaluated retrospectively. ResultsA total of 60 patients, 19 boys (31.66%), with a mean age of 12.46 ± 1.41 years were included in the study. The total consanguinity rate was 25%. The most common (29.5%) cause of referral to the Pediatric genetic department was the presence of skeletal anomalies (such as camptodactyly, clinodactyly, and short stature) with accompanying joint findings. Approximately one-third of the patients (n: 19) were diagnosed and followed up by the Pediatric Genetics department. The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia (SPENCD) (n: 3); and nonspecific connective tissue disorders (n: 8).ConclusionsIn the differential diagnosis of patients who are referred to the Department of Pediatric Rheumatology with complaints of the musculoskeletal system, genetic disorders should also be considered.

  • Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.

  • cathepsin k analysis in a pycnodysostosis cohort demographic genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics.

Teoman Akcay - One of the best experts on this subject based on the ideXlab platform.

  • Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.

  • cathepsin k analysis in a pycnodysostosis cohort demographic genotypic and phenotypic features
    Orphanet Journal of Rare Diseases, 2014
    Co-Authors: Ahmet Arman, Abdullah Bereket, Ajda Coker, Pelin Özlem Şimşek Kiper, Tulay Guran, Behzat Özkan, Zeynep Atay, Teoman Akcay, Belma Haliloglu, Koray Boduroğlu
    Abstract:

    Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to Pediatric endocrinology or dysmorphic features to Pediatric Genetics clinics.