Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.

International Heart Journal
Beáta CsányiRóbert Sepp

Abstract

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. A 69 year-old female index patient with a clinical history of renal failure, hypertrophic cardiomyopathy, and 2nd degree AV block was screened for mutation in the GLA gene. Genetic screening identified a previously unreported heterozygous mutation in exon 5 of the GLA gene (c.717A>G; p.Ile239Met). Family screening indicated that altogether 6 family members carried the mutation (5 females, 1 male, average age: 55 ± 16 years). Three family members, including the index patient, manifested the cardiac phenotype of hypertrophic cardiomyopathy, while two other family members were diagnosed with left ventricular hypertrophy. Taking affection status as the presence of hypertrophic cardiomyopathy, left ventricular hypertrophy or elevated lyso-Gb3 levels, all affected family members carried the mutation. Linkage analysis of the family gave a two-point LOD scor...Continue Reading

References

Apr 22, 2004·Journal of the American Society of Nephrology : JASN·Peter KotankoGere Sunder-Plassmann
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Sep 30, 2015·Orphanet Journal of Rare Diseases·Christoph KampmannMichael Beck

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Citations

May 26, 2017·International Heart Journal·Ryuichiro Anan
Feb 13, 2021·International Journal of Molecular Sciences·Daniela Sorriento, Guido Iaccarino
May 1, 2021·International Journal of Molecular Sciences·Olga AzevedoDamião Cunha

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