Morgan et al. (2006) described a large consanguineous Pakistani family in which affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Skin biopsy demonstrated abnormal aggregates of melanosomes within basal epidermal keratinocytes. The proband was born ... Morgan et al. (2006) described a large consanguineous Pakistani family in which affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Skin biopsy demonstrated abnormal aggregates of melanosomes within basal epidermal keratinocytes. The proband was born with silvery hair that later darkened to a 'gold' color. He had hazel eyes and pale skin that became red but did not tan in the sun. At the age of 21 years no history of bleeding or recurrent infections was noted. On examination, there was generalized hypopigmentation and reduced visual acuity. Eye examination revealed optic disc cupping, pale fundi, and moderate foveal hypoplasia. Visual evoked responses demonstrated increased chiasmal decussation. There was moderate hypermetropia with esotropia. A scalp skin biopsy performed at age 24 years revealed aggregates of abnormally small but fully melanized melanosomes. Morgan et al. (2006) described 5 other members of the family. All had similar features, and several had easy bruising, prolonged or excessive bleeding from wounds, and menorrhagia.
Morgan et al. (2006) noted that the human homolog of the mouse 'reduced pigmentation' (rp) gene, BLOC1S3 (609762), mapped to the target interval identified in a consanguineous Pakistani family with HPS. They identified a homozygous frameshift mutation in ... Morgan et al. (2006) noted that the human homolog of the mouse 'reduced pigmentation' (rp) gene, BLOC1S3 (609762), mapped to the target interval identified in a consanguineous Pakistani family with HPS. They identified a homozygous frameshift mutation in the BLOC1S3 gene (609762.0001) in all affected individuals.