ArticleAmerican journal of human genetics2004
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 164 citations in OpenAlex.
- Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.Communications biology · 2024Pooled it
- A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.Translational vision science & technology · 2026Article
- Sugar transporter SLC45 gene family members: roles in malignant tumors and research progress.Molecular biology reports · 2026Review
- A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2.Animal genetics · 2025Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Review
- Human Skin Pigmentation: From a Biological Feature to a Social Determinant.Healthcare (Basel, Switzerland) · 2023Review
- Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.Archives of dermatological research · 2023Review
- Article
- Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.Scientific reports · 2021Article
- A new type of oculocutaneous albinism with a novel OCA2 mutation.Yeungnam University journal of medicine · 2021Article
- Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.Biochimica et biophysica acta. Biomembranes · 2020Review
- Identification and Computational Analysis of NovelFrontiers in genetics · 2020Article
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
- Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.BMC medical genetics · 2019Article
- Burden of albinism: development and validation of a burden assessment tool.Orphanet journal of rare diseases · 2018Article
- Delineating the genetic heterogeneity of OCA in Hungarian patients.European journal of medical research · 2017Article
- Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.Journal of human genetics · 2015Article
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Authors and funding
14 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. Here, we report the mutational profile of OCA4, determined by genetic analysis of the MATP gene in a large Japanese population with OCA. Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. We discuss the functional melanogenic activity of each mutant allele, judging from the relationship between the phenotypes and genotypes of the patients. This is the first report on a large group of patients with OCA4.
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