Myosin Heavy Chain 14 (MYH14) Mutation: Novel Phenotype Description in a North American Family



Poster Number: M243


Al-Alya AlSabah, MD FRCPC, UCLA, Perry Shieh, MD, PhD, University of California Los Angeles

Myosin Heavy Chain 14 (MYH14) is a member of the nonmuscle myosin II family of ATP-dependent molecular motors, which interact with cytoskeletal actin and regulate cytokinesis cell motility and cell polarity. Mutations in the MYH14 gene have been reported to be associated with autosomal dominant nonsyndromic deafness 4A (DFNA4) and a complex phenotype of peripheral neuropathy, myopathy, hoarseness of voice and hearing loss in a Korean and a North American family. To the best of our knowledge, we report the first family with a heterozygous c.2798G>T missense variant in the MYH14 gene with macular dystrophy, in addition to distal motor axonal neuropathy, hearing loss, dysarthria and dysphagia. The findings broaden the phenotype spectrum of MYH14 variants.