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Cited by 815

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

Open access
Farooqi, I. Sadaf, Yeo, Giles S.H., Keogh, Julia M., Aminian, Shiva, Jebb, Susan A., Butler, Gary, Cheetham, Tim, O’Rahilly, Stephen·2000·Journal of Clinical Investigation
DOI 10.1172/jci9397
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Abstract

Over 20 severely obese subjects in 11 independent kindreds have been reported to have pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R), making this the most common known monogenic cause of human obesity. To date, the detailed clinical phenotype of this dominantly inherited disorder has not been defined, and no homozygous subjects have been described. We determined the nucleotide sequence of the entire coding region of the MC4R gene in 243 subjects with severe, early-onset obesity. A novel two-base pair GT insertion in codon 279 was found in two unrelated subjects, and four novel missense mutations, N62S, R165Q, V253I, C271Y, and one mutation (T112M) reported previously were found in five subjects. N62S was found in homozygous form in five children with severe obesity from a consanguineous pedigree. All four heterozygous carriers were nonobese. Several features of the phenotype, e.g. hyperphagia, tendency toward tall stature, hyperinsulinemia, and preserved reproductive function, closely resemble those reported previously in Mc4r knock-out mice. In addition, a marked increase in bone mineral density was seen in all affected subjects. In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity. Thus MC4R mutations result in a syndrome of hyperphagic obesity in humans that can present with either dominant or recessive patterns of inheritance.

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Metadata

Authors
Farooqi, I. S., Yeo, G. S. H., Keogh, J. M., Aminian, S., Jebb, S. A., Butler, G., Cheetham, T., & O’Rahilly, S.
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
2000-07-15
Volume
106
Issue
2
Pages
271-279
ISSN
0021-9738 (ISSN-L)
DOI
10.1172/jci9397
OpenAlex
W2147888023
Cited by
815
References
3
FWCI
17.26
Type
journal article
Language
en
Open access
bronze

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