Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family

Abstract The melanocortin receptor 1 (MC1R) plays an important role in melanogenesis and determining the production ratio of eumelanin and pheomelanin. MC1R is highly polymorphic, and some variants are related to red hair color or freckles. Here, we report the case of a Mongolian boy with red hair a...

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Veröffentlicht in:Journal of dermatological science 2016-11, Vol.84 (2), p.216-219
Hauptverfasser: Araki, Yuta, Okamura, Ken, M.D., P.h.D, Munkhbat, Batmunkh, Tamiya, Gen, Erdene-Ochir, Bujin, Nemekhbaatar, Lkhasuren, Hozumi, Yutaka, Suzuki, Tamio
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Sprache:eng
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Zusammenfassung:Abstract The melanocortin receptor 1 (MC1R) plays an important role in melanogenesis and determining the production ratio of eumelanin and pheomelanin. MC1R is highly polymorphic, and some variants are related to red hair color or freckles. Here, we report the case of a Mongolian boy with red hair and extensive freckles, mainly facial, and harboring multiple MC1R variants as found by whole-exome sequencing (WES). The proband was a 14-year-old boy living in the northwestern part of Mongolia. He developed extensive freckles on his sun-exposed area and showed lighter skin tone in comparison to other family members. He also had reddish hair and eyebrows, and gray to hazel irises. WES and phenotypic analysis for the proband, his mother, and his two brothers revealed that compound heterozygous MC1R variants (p.R142H and p.S172I) were responsible for his freckles and hair color. In Addition, the presence or absence of an eye-color associated variant in OCA2 (p.R419Q) clearly explained their eye color. This report may provide a considerably different phenotypic effect between single-hit MC1R and two-hit MC1R.
ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2016.08.009