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Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients
Author(s) -
Trioche Pascale,
Francoual Jeanne,
Chalas Jacqueline,
Capel Liliane,
Lindenbaum Albert,
Odièvre Michel,
Labrune Philippe
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200011)16:5<444::aid-humu10>3.0.co;2-f
Subject(s) - biology , single strand conformation polymorphism , mutant , genetics , glycogen storage disease , allele , gene , glycogen , mutation , wild type , glycogen storage disease type ii , microbiology and biotechnology , biochemistry , disease , medicine , enzyme replacement therapy
Forty‐eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose‐6‐phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X). © 2000 Wiley‐Liss, Inc.