Ontology highlight
ABSTRACT:
SUBMITTER: Cullinane AR
PROVIDER: S-EPMC3174312 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Cullinane Andrew R AR Vilboux Thierry T O'Brien Kevin K Curry James A JA Maynard Dawn M DM Carlson-Donohoe Hannah H Ciccone Carla C Markello Thomas C TC Gunay-Aygun Meral M Huizing Marjan M Gahl William A WA
The Journal of investigative dermatology 20110616 10
We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky-Pudlak syndrome type 2. This was ruled out because of the presence of platelet δ-granules and absence of AP3B1 mutations. As parental consanguinity suggested an autosomal recessive mode of inheritance, we employed homozygosity mapping, followed by whole-exome sequencing, to identify two candidate disease-ca ...[more]