title: Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.
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.
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Miyamichi
authors.affiliation: Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Asahina
authors.affiliation: Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.|Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
authors.forename: Junya
authors.initials: J
authors.lastname: Nakajima
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Sato
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Hosono
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Takahito
authors.initials: T
authors.lastname: Nomura
authors.affiliation: Department of Ophthalmology, Juntendo University Faculty of Medicine, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Negishi
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
authors.affiliation: Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D002675:Child, Preschool; D059472:Exome; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007564:Japan; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D041623:Tomography, Optical Coherence
chemical_list: C493901:HPS6 protein, human; D047908:Intracellular Signaling Peptides and Proteins