ArticleAmerican journal of human genetics2013
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma.Nature communications · 2026Pooled it
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- CHCHD2 mutant mice link mitochondrial deficits to PD pathophysiology.Science advances · 2025Article
- Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.Nature communications · 2025Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- The Rab32-LRMDA-Retriever Complex is a Key Regulator of Intestinal Immune Homeostasis.bioRxiv : the preprint server for biology · 2025Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).Genetics and molecular biology · 2025Article
- Clinical and mutational characteristics of oculocutaneous albinism type 7.Scientific reports · 2024Article
- Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses.International journal of molecular sciences · 2024Article
- Article
- Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.European journal of pediatrics · 2023Article
- A frame-shift mutation in COMTD1 is associated with impaired pheomelanin pigmentation in chicken.PLoS genetics · 2023Article
- Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.Archives of dermatological research · 2023Review
- Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.Frontiers in genetics · 2023Article
- Variants influencing age at diagnosis of HNF1A-MODY.Molecular medicine (Cambridge, Mass.) · 2022Article
- Review
- Two Novel HomozygousLife (Basel, Switzerland) · 2021Article
- Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.European journal of human genetics : EJHG · 2021Article
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.
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