Genetic analyses of Vietnamese patients with oculocutaneous albinism.

ABSTRACT:

Background

Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or reduction of melanin in melanocytes. Many types of OCA were observed based on the mutation in different causing genes relating to albinism. OCA can occur in non-syndromic and syndromic forms, where syndromic OCA coexists with additional systemic consequences beyond hypopigmentation and visual-associated symptoms.

Methods

We performed whole exome sequencing in seven affected individuals (P1-P7) for mutation identification, and then, Sanger sequencing was used for verifications.

Results

Among them, five patients (P1-P5) have mutations on TYR gene including c.346C > T, c.929insC, c.115 T > C, and c.559_560ins25. The

SUBMITTER: Thuong MTH 

PROVIDER: S-EPMC9459276 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature