Exploration of the Genetic Etiology of Complete Androgen Insensitivity Syndrome Using Whole Exome Sequencing Technology
ZHOU Jing
QIAO Feng-chang
ZHANG Cui-ping
LIU An
LI Li
JI Xiu-qing
XU Zheng-feng
Abstract：Complete androgen insensitivity syndrome(CAIS)is a disorder of sex development.Patients with CAIS have male-characteristic genetic materials,hormone levels,and gonads.However,due to abnormalities in the androgen receptors(AR),androgens cannot exert their biological effects,ultimately leading to a female phenotype in patients.Whole exome sequencing(WES)technology was used to analyze the genetic etiology of 4 patients highly suspected of having CAIS.The results indicated that all of them had mutations in the AR(NM_000044.6)gene.In case 1,there was a c.2401del:p.T801Pfs*8 variant in the AR gene.In case 2,a c.2494C＞T p.Arg832*stop_gained variant.In case 3,a c.1581G＞A p.Trp527*stop_gained variant,and in case 4,a c.57C＞A p.Tyr19*stop_gained variant.All of these variants were evaluated as pathogenic and were the main causes of CAIS.Among them,the AR gene mutations in cases 1,case 3 and case 4 had not been previously reported,and the AR gene mutation in case 2 had only been reported in one case.Using WES technology to detect the genetic etiology of CAIS can quickly,efficiently and accurately identify the pathogenic cause,thereby enabling a definite diagnosis and targeted treatment.
Keywords：Androgen-insensitivity syndromeReceptorsandrogenDisorders of sex developmentWhole exome sequencingDiagnosisComplete androgen insensitivity syndrome
Publication Date：2025-06-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 262-266 )