Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

@inproceedings{Cullinane2011HomozygosityMA,
  title={Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia},
  author={Andrew Robert Cullinane and Thierry Vilboux and Kevin P. O’Brien and James A. Curry and Dawn M. Maynard and Hannah Carlson-Donohoe and Carla de Campos Ciccone and Thomas C Markello and Meral Gunay-Aygun and Marjan Huizing and William A Gahl},
  booktitle={The Journal of investigative dermatology},
  year={2011}
}
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… CONTINUE READING
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