They concluded that the first intron is the only region within the FTO gene associated with obesity [24].Similarly, Bochukova et al. sequenced the SH2B1 gene in 500 Caucasian patients from the Genetics of Obesity Study (GOOS) but did not identify any coding or splice site mutations [18].Since all previous studies were undertaken mainly in Caucasian population, we aim to investigate the prevalence of rare missense mutations of FTO and SH2B1 in Chinese children with early-onset obesity. This evidence concerns the gene FTO and obesity due to melanocortin 4 receptor deficiency.