Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, China.
Department of Laboratory Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, 250021, China.
Eur J Med Genet. 2021 Jun;64(6):104228. doi: 10.1016/j.ejmg.2021.104228. Epub 2021 Apr 18.
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.(Asp427Glyfs27) and c.875_878delACAG p.(Asp292Alafs38) 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.
Hermansky-Pudlak 综合征是一种罕见的常染色体隐性遗传的白化病综合征，其特征为眼皮肤白化病、出血倾向和一系列临床并发症。尽管中国人口基数庞大，但国内对此病的报道却很少见。本研究通过临床观察和下一代测序，对 5 个无血缘关系的中国 Hermansky-Pudlak 综合征家系进行了临床表型和基因型分析。在 548 例眼皮肤白化病患者中，我们鉴定出 3 例 HPS-1 和 2 例 HPS-6 病例。通过下一代测序，我们鉴定出 5 种新的变异 [HPS1 中的 c.1279_1280insGGAG p.(Asp427Glyfs27)和 c.875_878delACAG p.(Asp292Alafs38)，以及 HPS6 中的 c.1999C>T p.(Arg667*)、c.335G>A p.(W112*)和 c.1732C>T p.(R578*)]。本研究结果扩展了已知变异谱和 Hermansky-Pudlak 综合征的遗传背景，有助于研究表型-基因型关系，并为 Hermansky-Pudlak 综合征患者的遗传咨询提供帮助。
