查看文章

Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen-debranching enzyme (AGL). Recent studies of the AGL gene have revealed the prevalent mutations in North African Jewish and Caucasian populations, but whether these common mutations are present in other ethnic groups remains unclear. We have investigated eight Japanese GSD IIIa patients from seven families and identified seven mutations, including one splicing mutation (IVS14+1G→T) previously reported by us, together with six novel ones: a nonsense mutation (L124X), a splice site mutation (IVS29–1G→C), a 1-bp deletion (587delC), a 2-bp deletion (4216–4217delAG), a 1-bp insertion (2072–2073insA), and a 3-bp insertion (4735–4736insTAT). The last mutation results in insertion of a tyrosine residue at a putative glycogen-binding site, and the rest are predicted to cause …