Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F01%3A00004110" target="_blank" >RIV/00216224:14310/01:00004110 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis
Original language description
Phosphorylase-b kinase (PHK) plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown. Deficiency in PHK activity leads to inactivation of glycogen phosphorylase and accumulation of glycogen in liver. Mutations in the gene for the a-subunit of liver phosphorylase-b kinase (PHKA2) are responsible for X-linked liver glycogenosis (XLG). We analysed molecular defects in the PHKA2 gene in four XLG I patients from three unrelated Czech families by direct sequencing of RT-PCRproducts. Genomic DNA was used to examine other family members and to verify the results from RT-PCR analysis. Three novel mutations associated with the XLG I phenotype were found. Two of the mutations were missense mutations C91Y and G1210E, located intwo highly conserved amino acid regions of the PHKA2 gene. The third was an in-frame deletion 3400delC leading to a premature termination. These findings expand our knowledge of mutations responsible for X-linked liver glycogenosis type I
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/GA302%2F97%2F0742" target="_blank" >GA302/97/0742: The comprehensive study of glycogen storage disease based on DNA analysis.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2001
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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