Canavan Disease: A Novel Mutation

被引：7

作者：

Schober, Harald ^{[1
]}

Luetschg, Juerg ^{[1
]}

Hoeliner, Isabella ^{[1
]}

Kalb, Stefanie ^{[2
]}

Simma, Burkhard ^{[1
]}

机构：

[1] Landeskrankenhaus Feldkirch, Acad Teaching Hosp, Dept Pediat, A-6800 Feldkirch, Austria

[2] Innsbruck Med Univ, Div Human Genet, Innsbruck, Austria

来源：

PEDIATRIC NEUROLOGY | 2011年 / 45卷 / 04期

关键词：

ASPARTOACYLASE GENE; OLIGODENDROCYTES;

D O I：

10.1016/j.pediatrneurol.2011.06.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：256 / 258

页数：3

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