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Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Authors :
Sperb-Ludwig F
Pinheiro FC
Bettio Soares M
Nalin T
Ribeiro EM
Steiner CE
Ribeiro Valadares E
Porta G
Fishinger Moura de Souza C
Schwartz IVD
Source :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Nov; Vol. 7 (11), pp. e877. Date of Electronic Publication: 2019 Sep 11.
Publication Year :
2019

Abstract

Background: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.<br />Methods: We analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools.<br />Results: Twenty-seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene.<br />Conclusions: The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.<br /> (© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Details

Language :
English
ISSN :
2324-9269
Volume :
7
Issue :
11
Database :
MEDLINE
Journal :
Molecular genetics & genomic medicine
Publication Type :
Academic Journal
Accession number :
31508908
Full Text :
https://doi.org/10.1002/mgg3.877