A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease

被引：10

作者：

Kuroda, Ryo

Satoh, Junichi

Yamamura, Takashi

Anezaki, Toshiharu

Terada, Tatsuhiro

Yamazaki, Kinya

Obi, Tomokazu

Mizoguchi, Kouichi

机构：

[1] Numazu City Hosp, Dept Neurol, Numazu, Shizuoka 4100302, Japan

[2] Shizuoka Inst Epilepsy & Neurol Disorders, Dept Neurol, Aoi Kuk, Shizuoka 4208688, Japan

[3] NCNP, Natl Inst Neurosci, Dept Immunol, Kodaira, Tokyo 1878502, Japan

[4] Meiji Pharm Univ, Dept Bioinformat & Neuroinformat, Tokyo 2048588, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2007年 / 252卷 / 01期

关键词：

compound heterozygote; DAP12; loss of function mutations; TYROBP; Nasu-Hakola disease;

D O I：

10.1016/j.jns.2006.09.019

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 34-year-old woman showed clinical features characteristic of Nasu-Hakola disease (NHD), also designated polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). The genetic analysis of the DAP12 gene (TYROBP) identified two heterozygous mutations composed of a previously reported single base deletion of 141G (141delG) in exon 3 and a novel single base substitution of G262T in exon 4, both of which are located on separate alleles. The protein sequence motif search indicated that both mutations encode truncated nonfunctional DAP12 polypeptides. This is the first case of NHD caused by compound heterozygosity for loss-of-function mutations in DAP12. (c) 2006 Elsevier B.V. All rights reserved.

引用

页码：88 / 91

页数：4

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