Article
Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.
Biochemical genetics - 1 Apr 2026
Kaul Haiba, Naz Shagufta, Ahmad Hafiz Ishfaq, Saleem Nameerah, Shakil Muhammad, Firasat Sabika, Majeed Bilal, Sharif Saima, Rashid Farzana, Etezaz Abdullah, Khan Muhammad Umer
Abstract excerpt
Oculocutaneous albinism is a rare genetic disorder characterized by the absence or reduction of melanin pigment in the skin, hair, and eyes, leading to various visual and dermatological challenges. To shed light on the molecular pathology of OCA in consanguineous Pakistani families, we conducted whole-exome sequencing on affected individuals from two families. We identified disease-causing homozygous mutations in...
Topics
- Humans
- Albinism, Oculocutaneous
- Pakistan
- Male
- Consanguinity
- Pedigree
- Female
- Monophenol Monooxygenase
- Membrane Transport Proteins
- Mutation, Missense
- Mutation
- Exome Sequencing