SPECTRUM OF MUTATIONS IN ASPARTYLGLUCOSAMINURIA

被引:63
作者
IKONEN, E [1 ]
AULA, P [1 ]
GRON, K [1 ]
TOLLERSRUD, O [1 ]
HALILA, R [1 ]
MANNINEN, T [1 ]
SYVANEN, AC [1 ]
PELTONEN, L [1 ]
机构
[1] UNIV TURKU,DEPT MED GENET,SF-20520 TURKU 52,FINLAND
关键词
D O I
10.1073/pnas.88.24.11222
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Aspartylglucosaminuria (AGU) is an inherited lysosomal storage disorder caused by the deficiency of aspartylglucosaminidase. We have earlier reported a single missense mutation (Cys163 --> Ser) to be responsible for 98% of the AGU alleles in the isolated Finnish population, which contains about 90% of the reported AGU patients. Here we describe the spectrum of 10 AGU mutations found in unrelated patients of non-Finnish origin. Since 11 out of 12 AGU patients were homozygotes, consanguinity has to be a common denominator in most AGU families. The mutations were distributed over the entire coding region of the aspartylglucosaminidase cDNA, except in the carboxyl-terminal 17-kDa subunit in which they were clustered within a 46-amino acid region. Based on the character of the mutations, most of them are prone to affect the folding and stability and not to directly affect the active site of the aspartylglucosaminidase enzyme.
引用
收藏
页码:11222 / 11226
页数:5
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