Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Research paper by Conghui C Wang, Panlai P Shi, Qianqian Q Li, Chenchen, Xuechao X Zhao, Renfeng R Zhang, Xiangdong X Kong

Indexed on: 21 Apr '21Published on: 21 Apr '21Published in: European Journal of Medical Genetics


Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large population base. In this study, we describe the clinical phenotypes and genotypes of five unrelated Chinese Hermansky-Pudlak syndrome pedigrees following clinical observation and next-generation sequencing. We identified three HPS-1 and two HPS-6 cases among 548 Chinese patients with oculocutaneous albinism. Five novel variants [c.1279_1280insGGAG p.(Asp427Glyfs*27) and c.875_878delACAG p.(Asp292Alafs*38) in HPS1 and c.1999C>T p.(Arg667*), c.335G>A p.(W112*), and c.1732C>T p.(R578*) in HPS6] were identified by next-generation sequencing. Our findings expand the spectrum of known variants and the genetic background of Hermansky-Pudlak syndrome, which may help in investigating phenotype-genotype relationships and aid in genetic counselling of patients with Hermansky-Pudlak syndrome. Copyright © 2021 Elsevier Masson SAS. All rights reserved.

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