Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene

Mani Sina, Anke Hinney*, Andreas Ziegler, Tanja Neupert, Hermann Mayer, Wolfgang Siegfried, Werner F. Blum, Helmut Remschmidt, Johannes Hebebrand

*Korrespondierende/r Autor/-in für diese Arbeit
133 Zitate (Scopus)

Abstract

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 carriers were identified. Extreme obesity was the predominating phenotype. However, moderate obesity occurred in three of the carriers. No other specific phenotypic abnormalities were detected. Female haploinsufficiency carriers were heavier than male carriers in the respective families, a finding similar to findings in MC4-R-knockout mice. In conclusion, our data fully support the etiologic role of MC4-R haploinsufficiency mutations in obesity.

OriginalspracheEnglisch
ZeitschriftAmerican Journal of Human Genetics
Jahrgang65
Ausgabenummer6
Seiten (von - bis)1501-1507
Seitenumfang7
ISSN0002-9297
DOIs
PublikationsstatusVeröffentlicht - 1999

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