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Article

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.

Neuromuscular disorders : NMD - 1 Nov 2016

Das Bhowmik Aneek, Dalal Ashwin, Matta Divya, Kandadai Rukmini M, Kanikannan Meena A, Aggarwal Shagun

Abstract excerpt

Schwartz-Jampel Syndrome type 1 is a rare autosomal recessive musculoskeletal disorder (OMIM #255800) caused by various mutations in the HSPG2 gene encoding protein perlecan, a ubiquitous heparan sulfate proteoglycan, which is an integral component of basement membranes and possesses angiogenic and growth-promoting attributes primarily by acting as a co-receptor for the basic fibroblast growth factors in human...

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Identifiers

PMID: 27521129
DOI: 10.1016/j.nmd.2016.07.004

Genes

HSPG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.PMID 27521129Read ↗

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