Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz-Jampel Syndrome Type 1 with Obesity: A Case Report

Ilenia Maini, Enrico Farnetti, Davide Nicoli, Elena Pavlidis, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Alessandro Iodice, Carlo Fusco

Research output: Contribution to journalArticlepeer-review

Abstract

Schwartz-Jampel syndrome type 1 (SJS1) is an autosomal recessive chondrodystrophic myotonia, linked to heparan sulfate proteoglycan 2 (HSPG2) variants. We describe a patient with typical features of SJS1, but not obesity. Clinical exome sequencing detected a rare missense variant in HSPG2, confirming our clinical diagnosis, but also two homozygous variants in SDC3 and ADRB3 genes, previously described to be associated with obesity. This additional genetic result could better explain our patient's phenotype. Despite the phenotypic variability associated to HSPG2 variants, it is advisable to carefully check other possible genetic causes underlying clinical signs not strictly related to the classical phenotype of SJS1.

Original languageEnglish
Pages (from-to)149-152
Number of pages4
JournalJournal of Pediatric Neurology
Volume17
Issue number4
DOIs
Publication statusPublished - Jan 1 2019

Keywords

  • HSPG2
  • obesity
  • Schwartz-Jampel syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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