Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

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Abstract

Glycogen storage disease type III (GSD III) is a rare autosomal recessive inherited disorder caused by a deficiency of the glycogen-debranching enzyme (AGL). We investigated two GSD III patients and identified four different mutations. Nucleotide sequence analysis revealed patient 1 of Chinese descent to be a compound heterozygote for a novel nonsense mutation, R34X, and the splicing mutation (IVS32−12A > G) reported in a Japanese patient. Patient 2 of Japanese origin was found to be compound heterozygous for a novel nonsense mutation, Y1148X, and the splicing mutation (IVS14+1G > T) that we had described previously. To determine whether splicing mutations occurred independently, we performed intense AGL haplotype analysis using 21 intragenic polymorphic markers plus a novel polymorphism IVS32−97 A/G in the vicinity of the IVS32 splicing mutation. Patient 1 of Chinese origin and the Japanese patient homozygous for the IVS32−12A > G were found to have different haplotypes, indicating the IVS32−12A > G mutation to be a recurrent mutation. This is the first recurrent mutation established by intense haplotyping in the AGL gene.

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Received: October 3, 2001 / Accepted: November 12, 2001

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Horinishi, A., Okubo, M., Tang, N. et al. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J Hum Genet 47, 55–59 (2002) doi:10.1007/s100380200000

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  • Key words Glycogen storage disease type III
  • Glycogen-debranching enzyme
  • AGL
  • Nonsense mutation
  • Splicing
  • Haplotype
  • Recurrent mutation

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