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Published on: August 15, 2019
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome
Abdullah Uzumcu1, Sukru Candan, Guven Toksoy
1Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
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 TPPsig-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.
Insights
This study investigated the genetic causes of Möbius syndrome, a rare congenital disorder. Mutation analyses of candidate genes BASP1 and TPPsig-BASP1 in nineteen patients excluded them as the primary cause.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Möbius syndrome is a rare congenital disorder characterized by facial palsy and ocular abduction anomalies.
- Abnormal development of cranial nerves V-XII is implicated in its pathogenesis.
- The genetic etiology of Möbius syndrome remains largely unknown, with limited molecular studies.
Purpose of the Study:
- To investigate the potential involvement of two candidate genes, BASP1 and TPPsig-BASP1, in the etiology of Möbius syndrome.
- To perform mutation analyses in patients with Möbius syndrome to identify causative genetic factors.
Main Methods:
- Selection of candidate genes BASP1 and TPPsig-BASP1 based on chromosomal location and potential regulatory roles.
- Mutation analysis of BASP1 and TPPsig-BASP1 in a cohort of nineteen patients diagnosed with Möbius syndrome.
Main Results:
- Mutation analyses in nineteen Möbius syndrome patients did not reveal mutations in the candidate genes BASP1 and TPPsig-BASP1.
- These specific genes were excluded as the primary causative agents for Möbius syndrome in this patient cohort.
Conclusions:
- The investigated genes, BASP1 and TPPsig-BASP1, are not the causative genes for Möbius syndrome.
- Further research is required to identify the genetic underpinnings of Möbius syndrome.
