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October 1, 2024BiomedicinesOpen Access

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Olga Shchagina Анна Степанова Polina V. Mishakova Vitaliy V. Kadyshev Nina Demina Л. А. Бессонова Sofya Ionova Daria Guseva Andrey V. Marakhonov Р. А. Зинченко Sergey I. Kutsev Aleksander Polyakov

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Abstract

oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the

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Cite This Study

Shchagina et al. (2024) studied this question.

synapsesocial.com/papers/68e56113e2b3180350efdba9 https://doi.org/10.3390/biomedicines12102234

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genetic Diagnosis of Oculocutaneous Albinism Type <scp>1A</scp>: A Novel <scp><i>TYR</i></scp> Variant2025
2Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)Retrospective Study · 2022 · 21 citations
3Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYROriginal Research · 2026 · 3 citations
4First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From CameroonOriginal Research · 2026
5Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report2024