A novel MC4R mutation associated with childhood-onset obesity: A case report

被引:38
作者
Doulla, Manpreet [1 ]
McIntyre, Adam D. [2 ]
Hegele, Robert A. [2 ]
Gallego, Patricia H. [3 ]
机构
[1] Western Univ, Schulich Sch Med & Dent, Dept Pediat, London, England
[2] Western Univ, Schulich Sch Med & Dent, Robarts Res Inst, London, England
[3] London Hlth Sci Ctr, Dept Pediat, Pediat Endocrinol Sect, Childrens Hosp, London, ON N6A 5W9, Canada
关键词
MC4R; Melanocortin; Obesity; MELANOCORTIN-4; RECEPTOR; DEFICIENCY; GENE; LESSONS; MOUSE;
D O I
10.1093/pch/19.10.515
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight. MC4R gene mutations are associated with early-onset severe obesity. Most patients are heterozygotes, with some reports of homozygotes and compound heterozygotes. The authors report a case involving an eight-year-old girl with progressive weight gain from infancy, body mass index 44 kg/m(2) (>97th percentile), hyperphagia, hyperinsulinemia and increased linear growth. There was no phenotype of morbid obesity in the parents or sibling. Coding regions and intron-exon boundaries of the genes encoding leptin, leptin receptor, pro-opiomelanocortin and MC4R were analyzed. Two heterozygous coding mutations in the MCR4 gene (S94N and C293R) were detected, of which the second has not been previously reported. The mutations were on opposite chromosomes, confirming compound heterozygosity. The molecular findings and clinical features associated with this novel MC4R mutation are described. The authors emphasize that rare mutations can be found in some patients with severe childhood-onset obesity.
引用
收藏
页码:515 / 518
页数:4
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