Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene

被引：0

作者：

M. Nagao

Jun-ichi Kadowaki

机构：

[1] Department of Pediatrics,

[2] National Otaru Hospital,undefined

[3] Department of Pediatrics,undefined

[4] 3-24-1 Nagahashi,undefined

[5] Otaru,undefined

[6] Hokkaido 047-0036,undefined

[7] Japan Tel. +81-134-32-5131; Fax +81-134-29-2164 e-mail: CXQ04341@niftyserve.or.jp,undefined

[8] Department of Pediatrics,undefined

[9] Sapporo Medical University,undefined

[10] Sapporo,undefined

[11] Japan,undefined

来源：

Journal of Human Genetics | 1998年 / 43卷

关键词：

Key words Dysmyelination; Laryngo-tracheomalacia; Missense mutation; Pelizaeus-Merzbacher disease; Proteolipid protein (PLP);

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We investigated the proteolipid protein (PLP) gene in two brothers in a Japanese family with a connatal form of Pelizaeus-Merzbacher disease (PMD). Direct sequencing of the PLP gene revealed an A-to-T transition in exon 4, which led to an Asp-to-Val substitution at re-sidue 202. Their mother was confirmed to be heterozygous for the mutation. The mutation was not found in 78 X-chromosomes of normal Japanese individuals. A correlation between the clinical severity of the disease in the brothers and the Asp202-to-Val mutation in the PLP gene was suggested.

引用

页码：206 / 208

页数：2

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