Melanocortin 4 receptor (MC4R) gene mutations are the most common cause of monogenic non-syndromic childhood obesity, but their relationship with asthma remains unclear. We report four cases of childr Show more
Melanocortin 4 receptor (MC4R) gene mutations are the most common cause of monogenic non-syndromic childhood obesity, but their relationship with asthma remains unclear. We report four cases of children with the same MC4R gene variant who presented with asthma in the setting of obesity. The asthma phenotype, severity, and presentation were variable between these patients. Some but not all also had comorbid obstructive sleep apnea (OSA) and evidence of metabolic abnormalities, including insulin resistance and hypertension. These findings suggest that the MC4R mutation and its associated morbid obesity are associated with asthma. Future studies are warranted to define the underlying pathobiology of asthma among children with MC4R mutations. Show less