Ontology highlight
ABSTRACT:
SUBMITTER: Morgan NV
PROVIDER: S-EPMC1380215 | biostudies-literature | 2006 Jan
REPOSITORIES: biostudies-literature
Morgan Neil V NV Pasha Shanaz S Johnson Colin A CA Ainsworth John R JR Eady Robin A J RA Dawood Ban B McKeown Carole C Trembath Richard C RC Wilde Jonathan J Watson Steve P SP Maher Eamonn R ER
American journal of human genetics 20051128 1
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Skin biopsy demonstrated abnormal aggregates of melanosomes within basal epidermal keratinocytes. A homozygous germline frameshift mutation in BLOC1S3 (p.Gln150ArgfsX75) was identified ...[more]