Myopathy associated with homozygous <i>PYROXD1</i> pathogenic variants detected by genome sequencing
Jeremy D. Woods, Négar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen, Matthew Herzog, Christina G.S. Palmer, Julián A. Martínez-Agosto, Undiagnosed Diseases Network, Stanley F. Nelson
Abstract
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.