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Article

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021

Pennamen Perrine, Tingaud-Sequeira Angèle, Gazova Iveta, Keighren Margaret, McKie Lisa, Marlin Sandrine, Gherbi Halem Souad, Kaplan Josseline, Delevoye Cédric, Lacombe Didier, Plaisant Claudio, Michaud Vincent, Lasseaux Eulalie, Javerzat Sophie, Jackson Ian, Arveiler Benoit

Abstract excerpt

PURPOSE: Albinism is a clinically and genetically heterogeneous condition. Despite analysis of the 20 known genes, ~30% patients remain unsolved. We aimed to identify new genes involved in albinism. METHODS: We sequenced a panel of genes with known or predicted involvement in melanogenesis in 230 unsolved albinism patients. RESULTS: We identified variants in the Dopachrome tautomerase (DCT) gene in two patients....

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PMID: 33100333
DOI: 10.1038/s41436-020-00997-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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