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Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus

Monica S Arroyo¹, Christine Fuller¹, Elizabeth K Schorry¹

¹From the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.

Neurology. Genetics

|July 22, 2024

Abstract

Objectives:

The GOSR2 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 GOSR2 gene, c.430G>T, has been associated with progressive myoclonus epilepsy (PME). There have been reports suggesting that compound heterozygous GOSR2 variants are associated with the congenital muscular dystrophy (CMD) phenotype.

Methods:

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 GOSR2 gene, one of which was the previously described PME-related c.430G>T(p.Gly144Trp), and a novel variant, c.22dup(p.Thr8fs).

Result:

To our knowledge, this is a novel case of compound heterozygous variants in GOSR2 associated with both CMD and PME phenotypes.

Discussion:

This case adds to the expanding clinical phenotype of GOSR2-related neurologic diseases.

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