Ontology highlight
ABSTRACT:
SUBMITTER: Sina M
PROVIDER: S-EPMC1288360 | biostudies-literature | 1999 Dec
REPOSITORIES: biostudies-literature
Sina M M Hinney A A Ziegler A A Neupert T T Mayer H H Siegfried W W Blum W F WF Remschmidt H H Hebebrand J J
American journal of human genetics 19991201 6
Recently, haploinsufficiency mutations in the melanocortin-4 receptor gene (MC4-R) were detected which were assumed to lead to the phenotype of extreme obesity. Previously, we detected three obese carriers among 306 index patients. Here we describe the detection of one haploinsufficiency carrier in an additional study group of 186 obese individuals. We subsequently genotyped and phenotyped 43 family members of these four index patients, two of whom were second-degree cousins. A total of 19 carri ...[more]