INTRODUCTION Obesity accounts for a substantial and growing burden of disease globally.
Body adiposity is highly heritable, and human genetic studies can lead to biological and …

Patients with monogenic obesity display numerous medical features on top of hyperphagic
obesity, but no study to date has provided an exhaustive description of their semiology. Two …

The recent development of next‐generation sequencing (NGS) technologies has led to an
increase of mutation screening reports of monogenic obesity genes in diverse experimental …

Monogenic non-syndromic obesity is characterized by severe early-onset obesity with
abnormal eating behaviour and endocrine disorders. Genes contributing to these rare forms …

Objectives To determine the prevalence of Melanocortin-4 Receptor (MC4R) mutations in a
cohort of children and adolescents with overweight or obesity and to determine whether …

Most known types of nonsyndromic monogenic obesity are caused by rare mutations in
genes of the leptin‐melanocortin pathway controlling appetite and adiposity. In contrast …

The loss of function melanocortin 4-receptor (MC4R) Ile269Asn mutation has been
proposed as one of the most important genetic contributors to obesity in the Mexican …

Context Studies in mice and humans suggest that melanocortin-4 receptor (MC4R)
deficiency affects body weight in a sex-/gender-dependent manner. However, similar …

Context A recent study identified 14 low-frequency coding variants associated with body
mass index (BMI) in 718 734 individuals predominantly of European ancestry. Objective We …

We investigated the association between the loss-of-function mutation MC4R p. Ile269Asn
and T2D risk in the Mexican population. We enrolled 6929 adults [3175 T2D cases and …