Mutation analysis of the MCM gene in Israeli patients with mut0 disease

被引：14

作者：

Berger, I

Shaag, A

Anikster, Y

Baumgartner, ER

Bar-Meir, M

Joseph, A

Elpeleg, ON ^{[1
]}

机构：

[1] Shaare Zedek Med Ctr, Metab Dis Unit, Jerusalem, Israel

[2] Shaare Zedek Med Ctr, Pediat Neurol Unit, Jerusalem, Israel

[3] Univ Childrens Hosp, Basel, Switzerland

来源：

MOLECULAR GENETICS AND METABOLISM | 2001年 / 73卷 / 01期

关键词：

methylmalonyl-CoA mutase; mut(0) methylmalonic acidemia;

D O I：

10.1006/mgme.2001.3166

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a --> g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region. (C) 2001 Academic Press.

引用

页码：107 / 110

页数：4

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