ArticleJournal of human genetics2016
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Two Novel HomozygousLife (Basel, Switzerland) · 2021Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.Medicine · 2019Observational
- Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.Annals of medicine · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.American journal of medical genetics. Part A · 2018Article
- Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.Japanese journal of ophthalmology · 2018Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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