Format

Send to

Choose Destination
See comment in PubMed Commons below
J Neurol Sci. 2007 Jan 15;252(1):88-91. Epub 2006 Nov 27.

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

Author information

1
Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka 420-8688, Japan. ryou.kuroda@hospital.yaizu.shizuoka.jp

Abstract

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.

PMID:
17125796
DOI:
10.1016/j.jns.2006.09.019
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center