RGD Reference Report - Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. - Rat Genome Database

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Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Authors: Inagaki, K  Suzuki, T  Shimizu, H  Ishii, N  Umezawa, Y  Tada, J  Kikuchi, N  Takata, M  Takamori, K  Kishibe, M  Tanaka, M  Miyamura, Y  Ito, S  Tomita, Y 
Citation: Inagaki K, etal., Am J Hum Genet. 2004 Mar;74(3):466-71. Epub 2004 Feb 11.
RGD ID: 1599921
Pubmed: PMID:14961451   (View Abstract at PubMed)
PMCID: PMC1182260   (View Article at PubMed Central)
DOI: DOI:10.1086/382195   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC45A2Humanoculocutaneous albinism type IV  IAGP DNA:missense mutations and frameshift mutations:cds:multiple (human)RGD 
Slc45a2Ratoculocutaneous albinism type IV  ISOSLC45A2 (Homo sapiens)DNA:missense mutations and frameshift mutations:cds:multiple (human)RGD 
Slc45a2Mouseoculocutaneous albinism type IV  ISOSLC45A2 (Homo sapiens)DNA:missense mutations and frameshift mutations:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC45A2HumanGeneralized hypopigmentation  IAGP DNA:missense mutations and frameshift mutations:cds:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Slc45a2  (solute carrier family 45, member 2)

Genes (Mus musculus)
Slc45a2  (solute carrier family 45, member 2)

Genes (Homo sapiens)
SLC45A2  (solute carrier family 45 member 2)


Additional Information