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Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
Author(s) -
Stroppiano M.,
Regis S.,
DiRocco M.,
Caroli F.,
Gandullia P.,
Gatti R.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005495131118
Subject(s) - glycogen storage disease , biology , allele , genetics , mutation , prenatal diagnosis , gene , glycogen storage disease type i , mutant , gene mutation , endocrinology , pregnancy , glycogen , fetus
Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose‐6‐phosphatase (G6Pase). Recent cloning of the G6Pase gene and the subsequent identification of several disease‐causing mutations have shown an ethnic molecular heterogeneity. Using SSCP analysis and DNA sequencing, we characterized the G6Pase gene of 53 unrelated Italian patients. The two most common mutations, R83C and Q347X, accounted for 66.9% of the mutant alleles. Eight novel mutations and three rare mutations were identified in 15.7% of disease alleles. These results suggest that a DNA‐based method can be used as an initial screening in Italian patients clinically suspected of having GSD1a, avoiding liver biopsy for enzymatic diagnosis. In particular, a noninvasive diagnosis is a suitable method for the Italian subpopulation coming from Sicily, where the R83C mutation is present in 80% of mutant alleles. Molecular carrier detection and prenatal diagnosis can be provided to GSD1a families with identified mutation in the propositus.