New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient

New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient

The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in <i>HPS1-10</i> and their related genes, comprising the biogenesis of lysosome-related organelles complex 1&#8211;3 and adapter protei...

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Bibliographic Details
Main Authors: Shinya Kato, Tsugumi Aoe, Akie Hamamoto, Hiroshi Takemori, Toshiya Nishikubo
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Reports
Subjects:
Hermansky-Pudlak syndrome type 5
oculocutaneous albinism
platelet aggregation
variant
Online Access:https://www.mdpi.com/2571-841X/2/2/15
Description
Summary:The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in <i>HPS1-10</i> and their related genes, comprising the biogenesis of lysosome-related organelles complex 1&#8211;3 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 (&#916;GA and &#916;G) in the <i>HPS5</i> gene. This was the first case of <i>HPS5</i> gene deficiency in Japan, and the two above-mentioned deletions have not yet been reported among patients with HPS5.
ISSN:2571-841X

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