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Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

Abstract：

:We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G) and one mutation previously reported (P1205L) were identified, revealing molecular heterogeneity in Japanese patients. Considering the dissimilarity in phenotype among our patients even with an identical mutation in the PHKA2 gene, it seems that each genetic deficiency in this gene may not be the only factor to determine the clinical heterogeneity in this disease.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Hirono H,Shoji Y,Takahashi T,Sato W,Takeda E,Nishijo T,Kuroda Y,Nishigaki T,Inui K,Takada G

doi

10.1023/a:1005422819207

subject

Has Abstract

pub_date

1998-12-01 00:00:00

pages

846-52

issue

8

eissn

0141-8955

issn

1573-2665

journal_volume

21

pub_type

杂志文章

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