%0 Journal Article
%T New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient
%A Akie Hamamoto
%A Hiroshi Takemori
%A Shinya Kato
%A Toshiya Nishikubo
%A Tsugumi Aoe
%J -
%D 2019
%R https://doi.org/10.3390/reports2020015
%X Abstract The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1¨C3 and adapter protein 3. Here, we report a Japanese patient with HPS associated with mild hypopigmentation, nystagmus, and impaired visual acuity. Sequencing analyses of the mRNA of this patient revealed new deletions (¦¤GA and ¦¤G) in the HPS5 gene. This was the first case of HPS5 gene deficiency in Japan, and the two above-mentioned deletions have not yet been reported among patients with HPS5. View Full-Tex
%K Hermansky-Pudlak syndrome type 5
%K oculocutaneous albinism
%K platelet aggregation
%K variant
%U https://www.mdpi.com/2571-841X/2/2/15