We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development.
- 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
- Abstract
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 considered a role for MC1R in this condition. A cohort of 166 CMN subjects underwent pigmentary phenotyping, with MC1R genotyping in 113. Results were compared with a local control group of 60 unrelated children and with 300 UK children without CMN. CMN subjects had higher prevalences of red hair and a red-haired parent than local controls and had a higher rate of compound heterozygosity and homozygosity for MC1R variants. The presence of a V92M or R allele (D84E, R151C, R160W, D294H) was associated with increasing size of the CMN, implying a growth-promoting effect of these alleles. Unexpectedly, the V92M and R151C alleles were also strongly associated with birth weight in the CMN cohort, a finding confirmed in the control group. The effect of germline MC1R genotype on development and severity of CMN led us to investigate potential broader effects on growth, revealing a role for MC1R in normal fetal development.
- Subjects
GERM cells; MELANOCORTIN receptors; HUMAN phenotype; MELANOMA treatment; FETAL development; NEVUS; HUMAN skin color
- Publication
Journal of Investigative Dermatology, 2012, Vol 132, Issue 8, p2026
- ISSN
0022-202X
- Publication type
Article
- DOI
10.1038/jid.2012.95