Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.

ABSTRACT:

Background

Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. These conditions are caused by mutations in specific genes necessary for the production of melanin. OCA is divided into eight clinical types (OCA1-8), each with different clinical phenotypes and potential genetic factors. This study aimed to identify the genetic causes of non-syndromic OCA in a Chinese Han family.

Methods

We performed a comprehensive clinical examination of family members, screened for mutation loci using whole exome sequencing (WES) techno

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10845747 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature