Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.

ABSTRACT:

Background

Oculocutaneous albinism (OCA) is a group of rare autosomal recessive disorders characterized by clinical genetic heterogeneity. OCA type II (OMIM: 203200) is the most common subtype among African and African Americans, primarily caused by pathogenic variants in the OCA2 (HGNC ID: 8101) gene. In this study, we presented a Chinese family with OCA and reported two novel variants in the OCA2 gene.

Methods

Whole-exome sequencing (WES) was performed to identify pathogenic variants in the proband. The candidate variants were subsequently validated using Sanger sequencing and QPCR assay. Additionally, bioinformatics analyses were employed to predict the deleteriousness and conservation of the identified mutations.

Results

In the 16-year-old male proband, two novel

SUBMITTER: Jiang B 

PROVIDER: S-EPMC10767448 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature