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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing |
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| Authors: | Jeremy D. Woods Negar Khanlou Hane Lee Rebecca Signer Perry Shieh Johnathan Chen Matthew Herzog Christina Palmer Julian Martinez-Agosto Undiagnosed Diseases Network Stanley F. Nelson |
| Affiliation: | 1. Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA;2. Department of Pathology, University of California Los Angeles, Los Angeles, California, USA;3. Department of Pathology, University of California Los Angeles, Los Angeles, California, USA Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA;4. Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA;5. Department of Neurology, University of California Los Angeles, Los Angeles, California, USA;6. Department of Radiology, University of California Los Angeles, Los Angeles, California, USA;7. Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA Department of Psychiatry and Behavioral Sciences, University of California Los Angeles, Los Angeles, California, USA;8. Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA |
| 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. |
| Keywords: | genome sequencing lobulate myopathy rare disease trabecular myopathy undiagnosed diseases network |