ID

45717

Beschrijving

Principal Investigator: Mark S. LeDoux, M.D., Ph.D, National Institutes of Health, Bethesda, MD, USA MeSH: Blepharospasm,Dystonia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001206 Blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles. Genetics plays an important role on the pathogenesis of BSP, especially in hereditary BSP families. In this project, a large African-American pedigree with BSP was phenotypically characterized and its relationship with known common dystonia genes was investigated with Sanger sequencing on dystonia genes such as *THAP1*, *TOR1A* and *GNAL*. And whole-exome sequencing (EXOME) of the proband was performed to identify all other dystonia-associated genes for potentially pathogenic SVs. A novel *THAP1* SV (c.314TC, p.L105S) was identified in the family, however, this SV did not co-segregate with blepharospasm in the pedigree. No pathogenic or likely pathogenic SVs in other dystonia-associated genes were identified with whole-exome sequencing. The current study makes available phenotype data and summary genotype data of n=12 family members (mutation absent/heterozygous for THAP1); whole exome sequencing data of one (het) subject are available through public SRA.

Link

dbGaP study = phs001206

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Versies (1)

1. 22-05-23 22-05-23 - Simon Heim

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Mark S. LeDoux, M.D., Ph.D, National Institutes of Health, Bethesda, MD, USA

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22 mei 2023

DOI

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