From: Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity
GENE | CHROMOSOME | INHERITANCE | PREVALENCE | PHENOTYPIC FEATURES |
---|---|---|---|---|
LEP | 7q31.1 | Recessive | Rare | Severe obesity, Hyperphagia, Hypogonadotropic hypogonadism, Central hypothyroidism. |
LEPR | 1p31 | Recessive | 1.5% | Severe obesity, Hyperphagia, Hypogonadotropic hypogonadism and central hypothyroidism (in some cases) |
POMC | 2p23.3 | Recessive | Rare | Severe obesity, Hyperphagia, Hypothyroidism, ACTH deficiency, Red hair (among Caucasians), Increased growth. |
MC4R | 18q22 | Dominant | 2.5% | Severe obesity, Hyperphagia, Excess fat and lean mass, Severe hyperinsulinaemia, Increased growth. |
Deletions involving SH2B1 | 16p11.2 | Dominant or de novo | 0.5% | Severe obesity, Hyperphagia and severe insulin resistance disproportionate for the degree of obesity, Mild developmental delay (in some cases). |