J Pediatr Neurol
DOI: 10.1055/s-0038-1668163
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Ilenia Maini*
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Enrico Farnetti*
2  Laboratory of Molecular Biology, AUSL-IRCCS of Reggio Emilia, Italy
,
Davide Nicoli
2  Laboratory of Molecular Biology, AUSL-IRCCS of Reggio Emilia, Italy
,
Elena Pavlidis
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Carlotta Spagnoli
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Grazia Gabriella Salerno
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Daniele Frattini
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Alessandro Iodice
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
,
Carlo Fusco
1  Department of Pediatrics, Child Neuropsychiatry Unit, AUSL-IRCCS of Reggio Emilia, Italy
› Author Affiliations
Further Information

Publication History

27 March 2018

06 July 2018

Publication Date:
15 August 2018 (eFirst)

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.

Statement of Ethics

Informed consent was obtained from the patient's parents following a full explanation of the procedures undertaken. Written consent for publication of photographs and all other clinical details were obtained.


* These authors equally contributed to this work.