Li et al. (2003) identified a 48-year-old Portuguese woman in which Hermansky-Pudlak syndrome was caused by mutation in the DTNBP1 gene (HPS7). She exhibited oculocutaneous albinism, ease of bruising, and a bleeding tendency. Bleeding time was 13 minutes, ... Li et al. (2003) identified a 48-year-old Portuguese woman in which Hermansky-Pudlak syndrome was caused by mutation in the DTNBP1 gene (HPS7). She exhibited oculocutaneous albinism, ease of bruising, and a bleeding tendency. Bleeding time was 13 minutes, and platelet aggregation indicated a storage-pool deficiency. The woman had mild shortness of breath on exertion and reduced lung compliance but otherwise normal pulmonary function and high resolution computed tomography (CT) chest scans, and had no muscle weakness or ataxia. Her parents were first cousins.
Li et al. (2003) showed that mutation in the dysbindin gene, Dtnbp1, causes the sdy phenotype and that mutation in the DTNBP1 gene causes human HPS7. Li et al. (2003) identified homozygosity for a nonsense mutation in the ... Li et al. (2003) showed that mutation in the dysbindin gene, Dtnbp1, causes the sdy phenotype and that mutation in the DTNBP1 gene causes human HPS7. Li et al. (2003) identified homozygosity for a nonsense mutation in the DTNBP1 gene (607145.0001) in a 48-year-old Portuguese woman with Hermansky-Pudlak syndrome.