BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

ABSTRACT:

Purpose

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. We aimed to identify new genes involved in nonsyndromic or syndromic forms of albinism.

Methods

Two hundred thirty albinism patients lacking a molecular diagnosis of albinism were screened for pathogenic variants in candidate genes with known links to pigmentation or HPS pathophysiology.

Results

We identified two unrelated patients with distinct homozygous variants of the BLOC1S5 gene. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of

SUBMITTER: Pennamen P 

PROVIDER: S-EPMC7529931 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature