Work

Nonsense Mutation (c.1425G>A-p.Trp475Ter) Associated with Oculocutaneous Albinism Type 1A (OCA1A) in Yogyakarta

Year: 2025

Type: article

Abstract: Oculocutaneous Albinism (OCA) is a disorder characterized by impaired melanin synthesis that leads to hypopigmentation of the skin, hair, and eyes, accompanied by distinct ocular abnormalities. The global prevalence of all forms of albinism is approximately 1 in 17,000 individuals, and OCA1 is the most common type. OCA1 results from mutations in the TYR gene and specifically involves a complete loss of tyrosinase enzyme function, resulting in a total absence of pigment in the skin, eyes, and hair. This case report describes two male patients with congenital symptoms of extremely light or depigmented skin and hair. Both presented with white eyelashes and eyebrows, grayish irises, and ocular abnormalities, including nystagmus, photophobia, and strabismus. The analysis showed a genetic variant in the exon of the TYR gene with the mutation variant c.1425G>A/p.Trp475Ter and was found to be a nonsense mutation.

Source: Jurnal Kedokteran Brawijaya

DOI: 10.21776/ub.jkb.2025.033.04.8

Authors: Karmilah Karmilah, Arini Dian Pratiwi, Niken Satuti Nur Handayani

Institution: Universitas Gadjah Mada

Language: English

Topic: melanin and skin pigmentation

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Universitas Gadjah Mada