Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome |
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| Authors: | Abdullah Uzumcu Birsen Karaman Guven Toksoy Z. Oya Uyguner Sukru Candan Hacer Eris Burak Tatli Bilge Geckinli Adnan Yuksel Hulya Kayserili Seher Basaran |
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| Affiliation: | aDepartment of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey;bDepartment of Medical Genetics, School of Medicine, Yeditepe University, Istanbul, Turkey;cDepartment of Genetics, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey;dDivision of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey;eDepartment of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey |
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| Abstract: | Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations suggested that a causative gene may lie on 13q12.2–q13, there have been no molecular studies targeting possible microdeletions in this region to date. In the present study, we performed microdeletion analyses on 13q12.11–q13 in nine patients, and sequenced three candidate genes in nineteen patients for functional relevance and further resolution of our screening. We ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded FGF9, GSH1 and CDX2 genes. |
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| Keywords: | Moebius syndrome Facial palsy Short tandem repeat Microdeletion Candidate gene Mutation screening |
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