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



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



Journal of the Neurological Sciences 252(1): 88-91



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.

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Accession: 012938859

Download citation: RISBibTeXText

PMID: 17125796

DOI: 10.1016/j.jns.2006.09.019


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