Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome

Andrew Wahba^1, 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

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

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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