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Article

Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.

Genes - 2 Sept 2023

Brugnoni Raffaella, Marelli Daria, Iacomino Nicola, Canioni Eleonora, Cappelletti Cristina, Maggi Lorenzo, Ardissone Anna

Abstract excerpt

Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the HSPG2 gene encoding the protein perlecan, a major component of basement membranes. We report a novel splice mutation HSPG2(NM_005529.7):c.3888 + 1G > A and a known point mutation HSPG2(NM_005529.7):c.8464G > A, leading to the skipping of exon 31 and 64 in mRNA, respectively, in a...

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Identifiers

PMID: 37761893
DOI: 10.3390/genes14091753
PMCID: PMC10531088

Genes

HSPG2

Provenance

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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