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...

Full description

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
id doaj-19ca6233c1d744e883820a048fc1ff7e
record_format Article
spelling doaj-19ca6233c1d744e883820a048fc1ff7e2020-11-25T02:19:07ZengMDPI AGReports2571-841X2019-05-01221510.3390/reports2020015reports2020015New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese PatientShinya Kato0Tsugumi Aoe1Akie Hamamoto2Hiroshi Takemori3Toshiya Nishikubo4Department of Life Science and Chemistry, Graduate School of Natural Science and Technology, Gifu University, Yanagido 1-1, Gifu 501-1193, JapanDepartment of Chemistry and Biomolecular Science, Faculty of Engineering, Gifu University, Yanagido 1-1, Gifu 501-1193, JapanDepartment of Chemistry and Biomolecular Science, Faculty of Engineering, Gifu University, Yanagido 1-1, Gifu 501-1193, JapanUnited Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Yanagido 1-1, Gifu 501-1193, JapanDivision of Neonatal Intensive Care, Center of Maternal Fetal Medicine, Nara Medical University, 840 Shijo, Kashihara, Nara 634-8522, JapanThe 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.https://www.mdpi.com/2571-841X/2/2/15Hermansky-Pudlak syndrome type 5oculocutaneous albinismplatelet aggregationvariant
collection DOAJ
language English
format Article
sources DOAJ
author Shinya Kato
Tsugumi Aoe
Akie Hamamoto
Hiroshi Takemori
Toshiya Nishikubo
spellingShingle Shinya Kato
Tsugumi Aoe
Akie Hamamoto
Hiroshi Takemori
Toshiya Nishikubo
New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
Reports
Hermansky-Pudlak syndrome type 5
oculocutaneous albinism
platelet aggregation
variant
author_facet Shinya Kato
Tsugumi Aoe
Akie Hamamoto
Hiroshi Takemori
Toshiya Nishikubo
author_sort Shinya Kato
title New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
title_short New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
title_full New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
title_fullStr New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
title_full_unstemmed New Deletions in the <i>Hermansky-Pudlak Syndrome Type 5</i> Gene in a Japanese Patient
title_sort new deletions in the <i>hermansky-pudlak syndrome type 5</i> gene in a japanese patient
publisher MDPI AG
series Reports
issn 2571-841X
publishDate 2019-05-01
description 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.
topic Hermansky-Pudlak syndrome type 5
oculocutaneous albinism
platelet aggregation
variant
url https://www.mdpi.com/2571-841X/2/2/15
work_keys_str_mv AT shinyakato newdeletionsintheihermanskypudlaksyndrometype5igeneinajapanesepatient
AT tsugumiaoe newdeletionsintheihermanskypudlaksyndrometype5igeneinajapanesepatient
AT akiehamamoto newdeletionsintheihermanskypudlaksyndrometype5igeneinajapanesepatient
AT hiroshitakemori newdeletionsintheihermanskypudlaksyndrometype5igeneinajapanesepatient
AT toshiyanishikubo newdeletionsintheihermanskypudlaksyndrometype5igeneinajapanesepatient
_version_ 1724878438719815680

Similar Items