کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1916542 1047327 2007 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 252, Issue 1, January 2007, Pages 88–91
نویسندگان
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