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All Journal Jurnal Kedokteran Brawijaya Biota: Jurnal Ilmiah Ilmu-Ilmu Hayati Biogenesis: Jurnal Ilmiah Biologi Biomedical Engineering Indonesian Journal of Tropical and Infectious Disease Indonesian Journal of Biotechnology JURNAL BIOLOGI INDONESIA Jurnal Penelitian Sains PROSIDING SEMINAR NASIONAL Jurnal Biomedika dan Kesehatan Edulab : Majalah Ilmiah Laboratorium Pendidikan Indonesian Journal of Mollusk Jurnal Kedokteran Hewan Berkala Ilmiah Biologi
Niken Satuti Nur Handayani
Fakultas Biologi, Universitas Gadjah Mada
Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Chemistry Earth & Planetary Sciences Education Environmental Science Health Professions Immunology & microbiology Materials Science & Nanotechnology Mathematics Medicine & Pharmacology Physics Public Health Veterinary

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Nonsense Mutation (c.1425G>A-p.Trp475Ter) Associated with Oculocutaneous Albinism Type 1A (OCA1A) in Yogyakarta Karmilah, Karmilah; Dian Pratiwi, Arini; Nur Handayani, Niken Satuti
Jurnal Kedokteran Brawijaya Vol. 33 No. 4 (2025)
Publisher : Fakultas Kedokteran Universitas Brawijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.jkb.2025.033.04.8

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.
Co-Authors Andika Tripramudya Onggo Anita Widianawati, Anita Dian Pratiwi, Arini Feri Sukmawati Harahap, Nur Imma Hery Wijayanto Indra Lesmana Karmilah Kazuo Yoshida Kazuo Yoshida, Kazuo Laksono Trisnantoro Maria Natalina Lumban Gaol Mukhlis Mukhlis Mulyadi Mulyadi Mulyati Mulyati Muslifah Hasanah Nobukazu Tanaka Nobukazu Tanaka, Nobukazu Nugraheni, Kireida Asta P, Purnomo Pertiwi, Ivory Martha Priyambodo Priyambodo Rarastoeti Pratiwi Rini Widayanti Rini Widayanti Rio Tri Rahmawati Rony Marsyal Kunda Rury Eprilurahman Saefudin, Siti Amalia Firdza Thoifur Ibnu Fajar, Muhammad Tony Febri Qurniawan Tri Ratnaningsih Trijoko Trijoko (Trijoko) Tuty Arisuryanti, Tuty Utami, Prasetyarti Yuyun Machwiyah Yuyun Machwiyah