Article

Prevalence and expressivity of loss of function mutations in the Melanocortin 4 Receptor (<i>MC4R</i>) in a UK birth cohort

2020-11-03

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the melanocortin 4 receptor gene ( MC4R ) have frequently been reported in severe early-onset human obesity but the prevalence and extent of phenotypic impact of such mutations are unclear. In a large UK birth cohort, we found that 17 of 5724 unrelated participants (∼1/337; 0.30%) were heterozygous for functionally deleterious mutations. At age 18 years, the mean difference in body w...

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Literature Corpus work: a5ca87fe-bc52-50e2-861a-40a21a7aae6a
DOI: 10.1101/2020.10.30.20220467

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