Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations

• Published in: Human mutation Vol. 15; no. 1; pp. 115 - 116
• Main Authors: Seydewitz, Hans H., Matern, Dietrich
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.01.2000; Hindawi Limited
• Subjects: Adult; Alleles; Child; DNA sequencing; Female; G6PC; glucose-6-phosphatase; Glycogen Storage Disease Type I - diagnosis; Glycogen Storage Disease Type I - ethnology; Glycogen Storage Disease Type I - genetics; glycogen storage disease type Ia; GSD Ia; Humans; Infant; Male; Molecular Biology - methods; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; SSCP
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W

Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L, and G188D have not been reported so far. This study underscores that molecular genetic analysis is a reliable and convenient alternative to the enzyme assay in a fresh liver biopsy specimen to diagnose GSD Ia. Hum Mutat 15:115–116, 2000. © 2000 Wiley‐Liss, Inc.