NR5A1基因p.L289R突变导致46,XY DSD病例1例

A novel L462R mutation of NR5A1 in a Chinese patient with 46,XY DSD

目的 报道NR5A1基因p.L289R突变导致46,XY DSD,扩充46,XY DSD产前诊断基因位点。方法 对先征者进行家系调查、全外显子组检测CNV分析,对检测到的目标基因进行致病性分析。结果 先征者、先证者姐姐和母亲均携带NR5A1基因c.866T>G(p.L289R)突变,先征者父亲未携带该基因突变位点。结论 NR5A1基因c.866T>G(p.L289R)突变导致先征者46,XY DSD的发生。

Objective To report the mutation of NR5AI gene p.L289R leads to 46,XY DSD.Expand the prenatal diagnosis gene locus of 46,XY DSD.Methods Family investigate,analysis the whole exons of the proband with CNV and analyze the pathogenicity of the detected target genes.Results The proband,proband's sister and mother all carry the mutation of NR5A1 gene c.866T>G(p.L289R),but the father of the proband does not carry the mutation site of this gene.Conclusion The mutation of NR5A1 gene c.866T>G(p.L289R)leads to the occurrence of 46,XY DSD with the proband.