We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A gene, NM_018014.3:c.148C > T; p.(Gln50*). A missense variant in MC4R, NM_005912.3:c.806T > A; p.(Ile269Asn), was also reported as a secondary finding. In her family, her father, paternal aunt, and paternal uncle were all reported to have height and weight measurements suggestive of Class 3 obesity with BMI>40 kg/m². The MC4R gene is not currently listed among those recommended for reporting of secondary findings by the American College of Medical Genetics and Genomics (ACMG). The identification of genetic risk factors for obesity is an emerging field without established guidelines for the care of patients who are found to have a predisposing genetic variant for obesity as a secondary finding. Management suggestions include interventions for weight-management, early screening for obesity-related co-morbidities, such as diabetes and dyslipidemia, and targeted therapies, such as MC4R agonists.

我们描述一个三岁的女性谁进行临床基因组测序，被诊断为BCL11A -相关智力残疾/迪亚斯-洛根综合征由于从头中，杂变异BCL11A基因，NM_018014.3：c.148C>吨; 第（Gln50 *）。MC4R中的一个错义变体，NM_005912.3：c.806T> A；p。（Ile269Asn），也被认为是次要发现。据报道，在她的家庭中，她的父亲，父亲的姨妈和父亲的叔叔的身高和体重均表明BMI> 40 kg / m ²属于3级肥胖。该MC4R该基因目前未列入美国医学遗传学和基因组学学院（ACMG）推荐用于报告次要发现的基因中。肥胖的遗传危险因素的鉴定是一个新兴领域，尚无确定的指导方针来照顾被发现具有肥胖遗传易感性遗传变异作为第二发现的患者。管理建议包括体重管理干预措施，早期筛查与肥胖相关的合并症（例如糖尿病和血脂异常）以及靶向疗法（例如MC4R激动剂）。