title: Hermansky-Pudlak syndrome with a novel mutation.
abstract: We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not observed. Histopathological findings of the biopsied lung tissue were compatible with HPS. Sequencing analysis showed the insertion of C in the codon 178 (739 bp) of the HPS1 gene forming a stop codon at codon 181. To the best of our knowledge, this is a novel HPS1 gene mutation.
authors.affiliation: Division of Respiratory Medicine, Respiratory and Stress Care Center, Kagoshima University Hospital, Kagoshima.
authors.forename: Jun
authors.initials: J
authors.lastname: Iwakawa
authors.forename: Wataru
authors.initials: W
authors.lastname: Matsuyama
authors.forename: Masaki
authors.initials: M
authors.lastname: Watanabe
authors.forename: Masuki
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Oonakahara
authors.forename: Kentarou
authors.initials: K
authors.lastname: Machida
authors.forename: Ikkou
authors.initials: I
authors.lastname: Higashimoto
authors.forename: Takahito
authors.initials: T
authors.lastname: Niiyama
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Osame
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Arimura
mesh_terms: D015897:Comorbidity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D022861:Hermanski-Pudlak Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008168:Lung / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000453:epidemiology; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017422:Sequence Analysis, DNA
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins