Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

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Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34390, Turkey
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Department of Genetics, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul 34668, Turkey
c.
Division of Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul 34390, Turkey
d.
Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul 34098, Turkey

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Corresponding author: E-mail address: basarans@istanbul.edu.tr (Seher Basaran)

摘要

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Abstract: Möbius 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 a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify the causative gene(s) are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TP?g-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Möbius syndrome.
- Möbius syndrome /
- facial palsy /
- candidate gene /
- transcribed processed pseudogene /
- non-coding RNA /
- mutation screening

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参考文献(34)

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