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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-05-26

AUTHORS

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

ABSTRACT

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 c.2038C>T: father origin) in the two sisters. To date, 10 associated mutations have been detected in HPS6. Although we detected no general manifestations, including platelet dysfunction, in the sisters, even in long-term follow-up, we established a diagnosis of HPS type 6 based on the HPS6 mutations and absence of dense bodies in the platelets, indicating that WES can identify cases of HPS type 6. To the best of our knowledge, this is the first report of HPS6 mutations in Japanese patients. More... »

PAGES

839-842

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.56

DOI

http://dx.doi.org/10.1038/jhg.2016.56

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015293225

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27225848


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