Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report

• Published in: Neurology. Genetics 2024-08, Vol.10 (4), p.e200177
• Main Authors: Arroyo, Monica S, Fuller, Christine, Schorry, Elizabeth K, Ulm, Elizabeth, Tian, Cuixia
• Format: Article
• Language: English
• ISSN: 2376-7839; 2376-7839
• DOI: 10.1212/NXG.0000000000200177

The gene is a Golgi vesicle transport gene that encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans-Golgi compartments. The homozygous missense variant in the gene, c.430G>T, has been associated with progressive myoclonus epilepsy (PME). There have been reports suggesting that compound heterozygous variants are associated with the congenital muscular dystrophy (CMD) phenotype. In this article, we report a pediatric case with congenital hypotonia, motor delay, elevated creatine kinase, and abnormal muscle biopsy consistent with CMD who subsequently developed PME. Whole-exome sequencing identified pathogenic compound heterozygous variants in the gene, one of which was the previously described PME-related c.430G>T(p.Gly144Trp), and a novel variant, c.22dup(p.Thr8fs). To our knowledge, this is a novel case of compound heterozygous variants in associated with both CMD and PME phenotypes. This case adds to the expanding clinical phenotype of -related neurologic diseases.