GOSR 2: A novel form of Congenital Muscular Dystrophy

Abstract

We describe an 36week male who was born with mild hypotonia and subsequently found to have severe developmental delay. There is also reported optic nerve atrophy. Serum creatine kinase (CK) was 5582. MRI of the brain demonstrated periventricular white matter loss, ventriculomegaly, and a thin corpus callosum. His muscle biopsy demonstrated severe non-specific dystrophic changes. Staining with VIA4-1, however, demonstrated normal levels of glycosylated alpha-dystroglycan, and genetic testing for genes known to cause Walker-Warburg Syndrome (WWS) was negative. Whole exome sequencing was performed, which demonstrated compound heterozygous mutations in GOSR2, including a previously described mut..