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Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family.

Pigment cell & melanoma research - 1 May 2025

Zhang Yingzi, Liu Teng, Yang Qingsong, Hu Xuyun, Li Wei, Wei Aihua

Abstract excerpt

Oculocutaneous albinism (OCA) is a complex genetic disorder characterized by reduced or absent pigmentation in the skin, hair, and eyes. Among the eight known subtypes, OCA-4 is caused by a mutation in SLC45A2, which plays a crucial role in melanin biosynthesis. While autosomal recessive inheritance is the most common pattern for all OCA subtypes, autosomal dominant cases are extremely rare. We report three...

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Source

Identifiers

PMID: 40195871
DOI: 10.1111/pcmr.70013

Genes

SLC45A2
MNT

Variants

Provenance

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