ФЕНОТИПЫ ГЕНЕТИЧЕСКИ ДЕТЕРМИНИРОВАННЫХ ФОРМ ОЖИРЕНИЯ

Abstract

A review of domestic and foreign literature describes the phenotypes of genetically determined forms of obesity. Among non-syndromic monogenic forms of obesity, variants associated with mutations in the leptine and leptine receptors genes are particularly prominent. Several rare forms are caused by mutations in genes that regulate the development of the hypothalamus and central nervous system. Ciliary dysfunction is at the root of the group of hereditary disorders – ciliopathy, including Bardet–Biedl and Joubert syndromes and accompanied by varying degrees of obesity. The diagnostic criteria for the Prader–Willi, Bardet–Biedl, and Cohen syndromes are presented. It is noted that early onset of severe obesity and delayed mental development require timely genetic analysis and correction therapy.