Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

摘要

abstract_textpGlycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen-debranching enzyme (AGL). We studied a 2-year-old GSD III patient whose parents were from different ethnic groups. Nucleotide sequence analysis of the patient showed two novel mutations: a single cytosine deletion at nucleotide 2399 (2399delC) in exon 16, and a G-to-A transition at the +5 position at the donor splice site of intron 33 (IVS33+5GA). Analysis of the mRNA produced by IVS33+5GA showed aberrant splicing: skipping of exon 33 and activation of a cryptic splice site in exon 34, Mutational analysis of the family revealed that the 2399delC was inherited from her father, who is of Japanese origin, and the IVS33+5GA from her mother, who is of Chinese descent, establishing that the patient was a compound heterozygote, To our knowledge, this is the first report of a mutation identified in a GSD III patient from the Chinese population. Am. J, Med, Genet, 93:211-214, 2000, (C) 2000 Wiley-Liss, Inc./p/abstract_text