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Article

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Nature communications - 30 Sept 2024

Green David J, Michaud Vincent, Lasseaux Eulalie, Plaisant Claudio, Fitzgerald Tomas, Birney Ewan, Black Graeme C, Arveiler Benoît, Sergouniotis Panagiotis I

Abstract excerpt

Although rare genetic conditions are mostly caused by DNA sequence alterations that functionally disrupt individual genes, large-scale studies using genome sequencing have started to unmask additional complexity. Understanding how combinations of variants in different genes shape human phenotypes is expected to provide important insights into the clinical and genetic heterogeneity of rare disorders. Here, we use...

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Identifiers

PMID: 39349469
DOI: 10.1038/s41467-024-52763-y
PMCID: PMC11443028

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The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.PMID 39349469Read ↗

The co-occurrence of genetic variants in the<i>TYR</i>and<i>OCA2</i>genes confers susceptibility to albinismSemantic proximity Read ↗

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Semantic proximity Read ↗

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.Semantic proximity Read ↗

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.Semantic proximity Read ↗

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.Semantic proximity Read ↗

The contribution of common regulatory and protein-coding <i>TYR</i> variants in the genetic architecture of albinismSemantic proximity Read ↗

Clinical and genetic variability in children with partial albinism.Semantic proximity Read ↗

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Semantic proximity Read ↗

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.Semantic proximity Read ↗

Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.Semantic proximity Read ↗

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.Semantic proximity Read ↗

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsSemantic proximity Read ↗

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