H. Hirono et al., Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1, J INH MET D, 21(8), 1998, pp. 846-852
We analysed the gene of the human alpha-subunit of liver phosphorylase kina
se (PHKA2) in four Japanese families with X-linked liver phosphorylase kina
se deficiency type 1 by RT-PCR followed by PCR-single-strand conformation p
olymorphism and direct DNA sequencing. In this study, two novel mutations (
Y116D and 2675A --> G) and one mutation previously reported (P1205L) were i
dentified, revealing molecular heterogeneity in Japanese patients. Consider
ing the dissimilarity in phenotype among our patients even with an identica
l 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.