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Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.

Pigment cell & melanoma research - 1 Mar 2025

Kawaguchi Junnosuke, Okamura Ken, Saito Toru, Arai Yosuke, Fujiwara Sakuhei, Kitamura Miwa, Tanizaki Hideaki, Hozumi Yutaka, Suzuki Tamio

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and systemic complications, including bleeding tendencies. While 11 genes associated with HPS have been identified, cases of HPS5 remain exceedingly rare, particularly in Japan. Here, we report two Japanese patients with novel pathological HPS5 variants, expanding the genetic spectrum of this disorder....

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Identifiers

PMID: 39988965
DOI: 10.1111/pcmr.13221

Genes

HPS5

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