Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development

• Published in: Journal of investigative dermatology Vol. 132; no. 8; pp. 2026 - 2032
• Main Authors: Kinsler, Veronica A., Abu-Amero, Sayeda, Budd, Peter, Jackson, Ian J., Ring, Susan M., Northstone, Kate, Atherton, David J., Bulstrode, Neil W., Stanier, Philip, Hennekam, Raoul C., Sebire, Neil J., Moore, Gudrun E., Healy, Eugene
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2012; Elsevier Limited; Nature Publishing Group
• Subjects: Adolescent; Adult; Alleles; Birth Weight; Child; Child, Preschool; Female; Gene Expression Regulation, Developmental; Genotype; Germ-Line Mutation; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Male; Nevus, Pigmented - metabolism; Original; Phenotype; Prevalence; Receptor, Melanocortin, Type 1 - genetics

Congenital melanocytic nevi (CMN) are pigmented birthmarks that affect up to 80% of the skin surface area. The increased frequency of CMN in families of severely affected individuals is suggestive of a predisposing germline genotype. We noted a high prevalence of red hair in affected families, and c...