Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

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 heterog...

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Bibliographic Details
Published in:Human mutation 2000-04, Vol.15 (4), p.381-381
Main Authors: Rake, Jan Peter, ten Berge, Annelies M., Visser, Gepke, Verlind, Edwin, Niezen-Koning, Klary E., Buys, Charles H.C.M., Smit, G. Peter A., Scheffer, Hans
Format: Article
Language:English
Subjects:
Adult
Exons - genetics
Female
Frameshift Mutation
G6Pase
Genotype
genotype-phenotype correlation
glucose-6-phosphatase
Glucose-6-Phosphatase - genetics
Glycogen Storage Disease - enzymology
Glycogen Storage Disease - genetics
glycogen storage disease type Ia
GSD Ia
Humans
Male
Nuclear Family
Phenotype
Polymorphism, Single-Stranded Conformational
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Summary: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.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(200004)15:4<381::AID-HUMU13>3.0.CO;2-K