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Identification of a novel mutation (867delA) in the glucose‐6‐phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes
Author(s) -
Rake Jan Peter,
ten Berge Annelies M.,
Visser Gepke,
Verlind Edwin,
NiezenKoning Klary E.,
Buys Charles H.C.M.,
Smit G. Peter A.,
Scheffer Hans
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(200004)15:4<381::aid-humu13>3.0.co;2-k
Subject(s) - biology , phenotype , hum , glycogen storage disease , genetics , glucose 6 phosphatase , gene , genotype , mutation , glycogen storage disease type i , glycogen storage disease type ii , genotype phenotype distinction , glycogen , disease , endocrinology , medicine , enzyme , biochemistry , enzyme replacement therapy , art , performance art , art history
We identified a novel mutation (867delA) in the glucose‐6‐phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterogeneity in phenotype is observed. So far, no evidence for a clear genotype‐phenotype correlation has been found. Hum Mutat 15:381, 2000. © 2000 Wiley‐Liss, Inc.