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A 4‐bp deletion promoter variant (rs984225803) is associated with mild OCA 4 among Japanese patients
Author(s) -
Okamura Ken,
Hayashi Masahiro,
Nakajima Osamu,
Kono Michihiro,
Abe Yuko,
Hozumi Yutaka,
Suzuki Tamio
Publication year - 2019
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12727
Subject(s) - allele , genetics , oculocutaneous albinism , biology , pathological , phenotype , gene , microbiology and biotechnology , mutation , albinism , medicine , pathology
Oculocutaneous albinism ( OCA ) type 4 is one of the most common types of albinism among Japanese population. In some patients who were clinically diagnosed with OCA , we have found a heterozygous pathological mutation in the coding region of SLC 45A2 , the gene responsible for OCA 4, not leading to a DNA ‐based diagnosis. In this study, we evaluated pathological variants in the promoter region of SLC 45A2 in these patients. The results indicated that the majority of the patients had a 4‐bp deletion in the said region (c.‐492_489del AATG ; GenBank accession number: NM_016180 ; rs984225803) in the contralateral allele. These patients displayed a mild phenotype, especially regarding eye manifestations. The results of the luciferase reporter assay and electrophoretic mobility shift assay supported the pathological role of the variant. In addition, four of 220 alleles in Japanese normal control subjects also showed the deletion variant, indicating that this variant could possibly be a skin color‐associated variant.