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

Kód výsledku v 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>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/GA302%2F97%2F0742" target="_blank" >GA302/97/0742: Komlexní studie glykogenos založená na DNA analýze</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2001

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

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Svazek periodika

24

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

85

Kód UT WoS článku

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EID výsledku v databázi Scopus

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