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

European journal of human genetics : EJHG - 1 May 2026

Farooq Muhammad, Bruun Gitte Hoffmann, Sarusie Menachem V K, Kessel Line, Akhtar Hamna, Abdullah Uzma, Ali Zafar, Shah Sajjad Ali, Ali Nijat, Anjum Iram, Doktor Thomas K, Andresen Brage Storstein, Baig Shahid Mahmood, Larsen Lars Allan, Grønskov Karen

Abstract excerpt

Oculocutaneous albinism (OCA) are genetically and clinically heterogeneous recessive disorders with at least 23 associated genes. Isolated OCA is characterized by hypopigmentation in the skin, hair, and eyes combined with ocular abnormalities. Hermansky Pudlak syndrome (HPS) and Chediak-Higaski syndrome are syndromic forms of OCA, distinguished by immunological and hematological symptoms in addition to...

Topics

Humans
Albinism, Oculocutaneous
Introns
Male
Female
Consanguinity
Monophenol Monooxygenase
Pedigree
DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Mutation

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Open in PubMed Open full text

Identifiers

PMID: 41807736
DOI: 10.1038/s41431-026-02070-5
PMCID: PMC13171863

Genes

TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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