Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease

被引:29
|
作者
Shaiu, WL [1 ]
Kishnani, PS [1 ]
Shen, JJ [1 ]
Liu, HM [1 ]
Chen, YT [1 ]
机构
[1] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
关键词
glycogen debranching enzyme; glycogen storage disease type III; mutation analysis; splice site mutation; genotype-phenotype correlation;
D O I
10.1006/mgme.1999.2953
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Deficiency of glycogen debranching enzyme (AGL) activity causes glycogen storage disease type III (GSD-III). Generalized loss of AGL activity results in GSD-IIIa, and muscle-specific retention of AGL activity results in GSD-IIIb. To date, no common mutation has been described among GSD-III patients, except for three alleles; two linked specifically with GSD-IIIb, and the third found only in North African Jews with GSD-IIIa. Here we report two frequent mutations, each of which was found in the homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. A novel point mutation of a single T deletion at cDNA position 3964 (3964delT) was first detected in an African American patient, who has a severe phenotype and early onset of clinical symptoms. The second mutation was an A to G transition at position -12 upstream of the 3' splice site of intron 32 (IVS32-12A > G). This lesion, previously implicated as a IIIb mutation in a Japanese patient, was identified in a confirmed GSD-IIIa Caucasian patient presenting with mild clinical symptoms. These two mutations together account for more than 12% of the molecular defects in the GSD-III patients tested. Our molecular and clinical data suggest a genotype-phenotype correlation for each of these mutations. Furthermore, this current study, coupled with our previous reports, describes the molecular tools necessary for the development of a DNA-based diagnostic test for GSD-III, (C) 2000 Academic Press.
引用
收藏
页码:16 / 23
页数:8
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