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Open AccessCase Report

New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient

1
Department of Life Science and Chemistry, Graduate School of Natural Science and Technology, Gifu University, Yanagido 1-1, Gifu 501-1193, Japan
2
Department of Chemistry and Biomolecular Science, Faculty of Engineering, Gifu University, Yanagido 1-1, Gifu 501-1193, Japan
3
United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Yanagido 1-1, Gifu 501-1193, Japan
4
Division of Neonatal Intensive Care, Center of Maternal Fetal Medicine, Nara Medical University, 840 Shijo, Kashihara, Nara 634-8522, Japan
*
Author to whom correspondence should be addressed.
Reports 2019, 2(2), 15; https://doi.org/10.3390/reports2020015
Received: 13 April 2019 / Revised: 10 May 2019 / Accepted: 14 May 2019 / Published: 15 May 2019
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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 1–3 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 (ΔGA and ΔG) 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-Text
Keywords: Hermansky-Pudlak syndrome type 5; oculocutaneous albinism; platelet aggregation; variant Hermansky-Pudlak syndrome type 5; oculocutaneous albinism; platelet aggregation; variant
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MDPI and ACS Style

Kato, S.; Aoe, T.; Hamamoto, A.; Takemori, H.; Nishikubo, T. New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient. Reports 2019, 2, 15.

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