Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes

Neuromuscular Disorders : NMD
K FendriR Amouri

Abstract

The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous family sharing similar LGMD 2 phenotype but heterogeneous sarcoglycans immunohistochemical patterns. Linkage analysis suggests linkage with the LGMD 2D locus for the two siblings and with LGMD 2C locus for the third patient. Mutation analysis revealed two distinct mutations. A del521T homozygous mutation in exon 6 of the SGCG gene (LGMD 2C), widely distributed in Tunisian patients, was found in one patient, whereas a 157G>A homozygous mutation in exon 2 of the SGCA gene (LGMD 2D) was found in the two siblings. The presence of two distinct genetic forms, LGMD 2C and LGMD 2D in a consanguineous family raises the problem of the complexity of genetic counselling in inbred populations.

Citations

Sep 14, 2007·European Journal of Human Genetics : EJHG·Karina LezirovitzRegina C Mingroni-Netto
May 27, 2015·Clinical Genetics·L RomdhaneS Abdelhak
Mar 6, 2016·Journal of the Neurological Sciences·Wen-Chen LiangYuh-Jyh Jong
Mar 21, 2012·International Journal of Pediatric Otorhinolaryngology·Mariem Ben SaidMounira Hmani-Aifa
Jan 5, 2011·American Journal of Medical Genetics. Part a·Lilia RomdhaneUNKNOWN Collaborators
Nov 23, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Lianna IshiharaFaycal Hentati
Apr 14, 2021·JCI Insight·Helena EscobarSimone Spuler

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