title: A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.
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.
authors.affiliation: Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka 420-8688, Japan. ryou.kuroda@hospital.yaizu.shizuoka.jp
authors.forename: Ryo
authors.initials: R
authors.lastname: Kuroda
authors.forename: Junichi
authors.initials: J
authors.lastname: Satoh
authors.forename: Takashi
authors.initials: T
authors.lastname: Yamamura
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Anezaki
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Terada
authors.forename: Kinya
authors.initials: K
authors.lastname: Yamazaki
authors.forename: Tomokazu
authors.initials: T
authors.lastname: Obi
authors.forename: Kouichi
authors.initials: K
authors.lastname: Mizoguchi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D001845:Bone Cysts / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics* / Q000473:pathology; D011971:Receptors, Immunologic / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011971:Receptors, Immunologic; C110546:TYROBP protein, human; D018698:Glutamic Acid