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Article

Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report.

Molecular medicine reports - 1 Aug 2018

Yan Wenjin, Dai Jin, Shi Dongquan, Xu Xingquan, Han Xiao, Xu Zhihong, Chen Dongyang, Teng Huajiang, Jiang Qing

Abstract excerpt

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disease caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2; also known as basement membrane‑specific heparin sulfate). In the present study, a 10‑year‑old female SJS1 proband from a Chinese family, who was diagnosed by X‑ray and physical examination, was recruited. The key clinical features of the patient with SJS1 included...

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Identifiers

PMID: 29901129
DOI: 10.3892/mmr.2018.9143

Genes

HSPG2

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