Germline Melanocortin-1-Receptor Genotype Is Associated with Severity of Cutaneous Phenotype in Congenital Melanocytic Nevi: A Role for MC1R in Human Fetal Development
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...
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| Published in | Journal of investigative dermatology Vol. 132; no. 8; pp. 2026 - 2032 |
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| Main Authors | , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.08.2012
Elsevier Limited Nature Publishing Group |
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| 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. |
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| AbstractList | 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.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. 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. 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. |
| Author | Jackson, Ian J. Abu-Amero, Sayeda Ring, Susan M. Healy, Eugene Sebire, Neil J. Moore, Gudrun E. Bulstrode, Neil W. Stanier, Philip Atherton, David J. Kinsler, Veronica A. Hennekam, Raoul C. Budd, Peter Northstone, Kate |
| Author_xml | – sequence: 1 givenname: Veronica A. surname: Kinsler fullname: Kinsler, Veronica A. email: v.kinsler@ucl.ac.uk organization: Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK – sequence: 2 givenname: Sayeda surname: Abu-Amero fullname: Abu-Amero, Sayeda organization: Clinical and Medical Genetics Unit, Institute of Child Health, London, UK – sequence: 3 givenname: Peter surname: Budd fullname: Budd, Peter organization: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK – sequence: 4 givenname: Ian J. surname: Jackson fullname: Jackson, Ian J. organization: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK – sequence: 5 givenname: Susan M. surname: Ring fullname: Ring, Susan M. organization: School of Social and Community Medicine, University of Bristol, Bristol, UK – sequence: 6 givenname: Kate surname: Northstone fullname: Northstone, Kate organization: School of Social and Community Medicine, University of Bristol, Bristol, UK – sequence: 7 givenname: David J. surname: Atherton fullname: Atherton, David J. organization: Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK – sequence: 8 givenname: Neil W. surname: Bulstrode fullname: Bulstrode, Neil W. organization: Department of Plastic Surgery, Great Ormond Street Hospital for Children, London, UK – sequence: 9 givenname: Philip surname: Stanier fullname: Stanier, Philip organization: Neural Development Unit, Institute of Child Health, London, UK – sequence: 10 givenname: Raoul C. surname: Hennekam fullname: Hennekam, Raoul C. organization: Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands – sequence: 11 givenname: Neil J. surname: Sebire fullname: Sebire, Neil J. organization: Department of Histopathology, Great Ormond Street Hospital for Children, London, UK – sequence: 12 givenname: Gudrun E. surname: Moore fullname: Moore, Gudrun E. organization: Clinical and Medical Genetics Unit, Institute of Child Health, London, UK – sequence: 13 givenname: Eugene surname: Healy fullname: Healy, Eugene email: e.healy@soton.ac.uk organization: Dermatopharmacology, University of Southampton, School of Medicine, Southampton, UK |
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| Snippet | 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... |
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| SubjectTerms | 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 |
| 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 |
| URI | https://dx.doi.org/10.1038/jid.2012.95 https://www.ncbi.nlm.nih.gov/pubmed/22572819 https://www.proquest.com/docview/1024954941 https://www.proquest.com/docview/1027681030 https://pubmed.ncbi.nlm.nih.gov/PMC3398254 |
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