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 <a href="http://www.ncbi.nlm.nih.gov/gene/?term=55145">THAP1</a>, <a href="http://www.ncbi.nlm.nih.gov/gene/?term=1861">TOR1A</a> and <a href="http://www.ncbi.nlm.nih.gov/gene/?term=2774">GNAL</a>. And whole-exome sequencing (EXOME) of the proband was performed to identify all other dystonia-associated genes for potentially pathogenic SVs. A novel <a href="http://www.ncbi.nlm.nih.gov/gene/?term=55145">THAP1</a> SV (c.314T>C, 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 <a href="https://www.ncbi.nlm.nih.gov/sra/SRX3065424[accn]">public SRA</a>.

Blepharospasm in a Multiplex African-American Pedigree

Blepharospasm in a multiplex African-American pedigree