X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation

Glycogen storage disease (GSD) is a group of inherited metabolic disorders due to enzymatic deficiency involved in glycogen breakdown. In various subtypes of GSD, GSD IXa is an X-linked recessive disorder, which only manifested in males. Here, we report a case of X-linked GSD IXa manifested in a fem...

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Bibliographic Details
Published in:Clinica chimica acta 2013-11, Vol.426, p.75-78
Main Authors: Cho, Sun Young, Lam, Ching-wan, Tong, Sui-Fan, Siu, Wai-Kwan
Format: Article
Language:English
Subjects:
Adult
Alleles
China
Chromosomes, Human, X - genetics
DNA Mutational Analysis
Female
Glycogen storage disease
Glycogen Storage Disease - genetics
Humans
Liver glycogenosis
Mutation
Phosphorylase Kinase - genetics
Phosphorylase kinase deficiency
X Chromosome Inactivation - genetics
X-linked
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Summary:Glycogen storage disease (GSD) is a group of inherited metabolic disorders due to enzymatic deficiency involved in glycogen breakdown. In various subtypes of GSD, GSD IXa is an X-linked recessive disorder, which only manifested in males. Here, we report a case of X-linked GSD IXa manifested in a female Chinese patient accompanying a skewed X-chromosome inactivation (XCI). A 29-y-old Chinese female was admitted to evaluate mild hepatomegaly, which was repeatedly observed in serial abdominal ultrasonographic examinations. GSDIXa was suspected. To identify the mutation and the disease mechanism, we performed sequencing analysis of the PHKA2 gene, XCI assay and cDNA expression analysis. Sequencing analysis revealed a heterozygous mutation in the PHKA2 gene (c.3614C>T; p.P1205L) of the patient. In XCI assay, the proband showed a skewed XCI pattern cDNA expression analysis showed a preferential expression of the mutant allele in leukocytes of the patient. This is a rare report of X-linked GSD IXa manifested in a female carrier with skewed XCI. Skewed XCI can play a key role in the manifestation of X-linked recessive disorders in female carriers. •The female proband having heterozygous mutations in PHKA2 gene, manifested GSD.•This study is a rare report of X-linked GSD IXa manifested in a female carrier with skewed XCI.•It was proven by cDNA expression study as well as XCI assay.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2013.08.026