Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.

ABSTRACT:

Background

Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants.

Objective

To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation.

Methods

Genomic DNA was extracted from the peripheral blood samples of the patient, his parents, and elder brother. Whole exome sequencing was performed in the family, and Sanger sequencing was then used to verify the mutations.

Results

Compound heterozygous variants, c.1304C>A (p.S435Y) and c.301C>G (p.R101G) in SLC45A2 gene, were detected in the proband, which were inherited from his father and mother respectively. Based on the ACMG guidelines

SUBMITTER: He D 

PROVIDER: S-EPMC10858317 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature