Objective：Toreportanewmutationintheinsulinreceptor（INSR）geneinapatientwithsevereinsulinresistanceandre－viewrelatedliterature.Methods：Theclinicaldata，laboratorytestresults，imagingexaminationresults，andINSRgenemutationdataofa9-year-oldobesemalepatientwithsevereinsulinresistanceandacanthosisnigricanswerecollected，andthetypesofINSRgenemutationreportedbydomesticscholarssince1991wereretrospectivelyanalyzed.Results：Thelaboratorytestresultsofthepatientwithacanthosisnigricansindicatedsevereinsulinresistance.Moleculardiagnosisfoundc.1088_1090del，aheterozygousnucleotidemutation，inboththeprobandandhisfather.Thismutationwasanewtypeofmutationandmightbeassociatedwithsevereinsulinresistanceofthepatient.Conclusion：Geneticanalysiscanhelptoconfirmetiologyinchildrenwithsevereinsulinresistance.
ChengYangyang, YueLing. Anewmutationintheinsulinreceptorgeneinapatientwithsevereinsulinresistance：acasereportandliteraturereview[J]. Journal of Chongqing Medical University,2020,45(3):420-
