ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 55 citations in OpenAlex.
- The prevalence of epidermal skin malignancies in people living with oculocutaneous albinism attending the Universitas Academic Hospital, Bloemfontein, South Africa.Dermatology reports · 2026Article
- Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits.Nature cardiovascular research · 2026Article
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.European journal of human genetics : EJHG · 2026Article
- Ophthalmic imaging as a measure of cardiovascular and neurological health: a multi-omic analysis of deep-learning derived phenotypes.medRxiv : the preprint server for health sciences · 2025Article
- Non-melanoma skin cancer and HPV in persons with albinism: a call for research investment.British journal of cancer · 2025Review
- The Impact of Oxytocin on Stimulus Discrimination of Zebrafish Albino and Non-Albino Models.International journal of molecular sciences · 2025Article
- Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8.Investigative ophthalmology & visual science · 2025Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital.Health SA = SA Gesondheid · 2025Article
- The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.BMC medicine · 2024Article
- mEpigenetics · 2023Article
- A multilayered approach to the analysis of genetic data from individuals with suspected albinism.Journal of medical genetics · 2023Article
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.Investigative ophthalmology & visual science · 2023Observational
- Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.European journal of pediatrics · 2023Article
- Pigmentation and TYRP1 expression are mediated by zinc through the early secretory pathway-resident ZNT proteins.Communications biology · 2023Article
- Article
- In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles.International journal of molecular sciences · 2022Article
- Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?International journal of molecular sciences · 2022Article
- TheGenes · 2022Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeAlbinism 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.
methodsWe sequenced a panel of genes with known or predicted involvement in melanogenesis in 230 unsolved albinism patients.
resultsWe identified variants in the Dopachrome tautomerase (DCT) gene in two patients. One was compound heterozygous for a 14-bp deletion in exon 9 and c.118T>A p.(Cys40Ser). The second was homozygous for c.183C>G p.(Cys61Trp). Both patients had mild hair and skin hypopigmentation, and classical ocular features. CRISPR-Cas9 was used in C57BL/6J mice to create mutations identical to the missense variants carried by the patients, along with one loss-of-function indel. When bred to homozygosity the three mutations revealed hypopigmentation of the coat, milder for Cys40Ser compared with Cys61Trp or the frameshift mutation. Histological analysis identified significant hypopigmentation of the retinal pigmented epithelium (RPE) indicating that defective RPE melanogenesis could be associated with eye and vision defects. DCT loss of function in zebrafish embryos elicited hypopigmentation both in melanophores and RPE cells.
conclusionDCT is the gene for a new type of oculocutaneous albinism that we propose to name OCA8.
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