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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Author(s) -
Seydewitz Hans H.,
Matern Dietrich
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/(sici)1098-1004(200001)15:1<115::aid-humu23>3.0.co;2-w
Subject(s) - biology , glycogen storage disease , genetic analysis , allele , mutation , genetic testing , liver biopsy , disease , genetics , biopsy , microbiology and biotechnology , gene , medicine , glycogen , endocrinology
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.