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Article

Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

Journal of human genetics - 1 Sept 2016

Miyamichi Daisuke, Asahina Miki, Nakajima Junya, Sato Miho, Hosono Katsuhiro, Nomura Takahito, Negishi Takashi, Miyake Noriko, Hotta Yoshihiro, Ogata Tsutomu, Matsumoto Naomichi

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Hermansky-Pudlak syndrome 6) gene. Trio-based whole-exome sequencing (WES) identified novel compound heterozygous mutations in HPS6 (c.1898delC: mother origin and...

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Identifiers

PMID: 27225848
DOI: 10.1038/jhg.2016.56

Genes

HPS6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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