Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs) in the muscle fibers and myopathic changes of differing severity. Inheritance is variable, with either putative autosomal-dominant or autosomal-recessive pattern. Here, using a comprehensive strategy combining whole-genome sequencing (WGS), long-read whole-genome sequencing (LRS), linkage analysis, repeat-primed polymerase chain reaction (RP-PCR), and fluorescence amplicon length analysis polymerase chain reaction (AL-PCR), we identified an abnormal GGC repeat expansion in the 5 ′ UTR of GIPC1 in one out of four families and three sporadic case subjects from a Chinese OPDM cohort.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research