American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: http://www.sciepub.com/journal/ajmcr Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2020, 8(10), 325-327
DOI: 10.12691/ajmcr-8-10-1
Open AccessCase Report

Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome

Andrew Wahba1, and Rafik ElBeblawy2

1Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center Houston,TX

2University of Louisville, School of Medicine, Louisville, KY

Pub. Date: June 16, 2020

Cite this paper:
Andrew Wahba and Rafik ElBeblawy. Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome. American Journal of Medical Case Reports. 2020; 8(10):325-327. doi: 10.12691/ajmcr-8-10-1

Abstract

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive hereditary disorder characterized by the triad of myotonia, facial dysmorphisms, and skeletal deformities. Less than 150 cases have been reported in the medical literature. SJS is caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2) located on chromosome 1p34-36.1 which encodes perlecan, a major component of basement membranes. Here we report three novel mutations in a 6-year-old girl.

Keywords:
Schwartz-Jampel syndrome heparan sulfate proteoglycan 2 HSPG2 myotonia

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