NR5A1基因c.938G>A (p.Arg313His)新变异致46,XY性发育异常患儿的遗传学分析1例  

Genetic analysis of a child with 46,XY sexual developmental abnormalities caused by a new mutation in the NR5A1 gene c.938G>A(p.Arg313His)

作　　者：郭双双 王大燕 李小兵 赖盼建 Guo Shuangshuang;Wang Dayan;Li Xiaobing;Lai Panjian(School of Medicine,Shaoxing University,Shaoxing 312000,China;Ward 3 of Jinhua Maternal and Child Health Hospital,Jinhua 321000,China)

机构地区：[1]绍兴文理学院医学院,绍兴312000 [2]金华市妇幼保健院儿内三病区,金华321000

出　　处：《国际遗传学杂志》2024年第4期309-316,共8页International Journal of Genetics

摘　　要：目的对1例NR5A1基因新变异所致46,XY性发育异常患儿进行遗传学分析,明确其遗传学病因,并讨论该疾病的性别选择。方法收集患儿临床资料,并采集患儿与其父母的外周血进行全外显子基因测序和Sanger测序。结果该患儿外生殖器表型为正常女性,但腹腔镜探查可见男性性腺组织,未见子宫和双侧附件。WES测序结果显示,患者NR5A1基因(NM_004959.5)第5外显子存在c.938G>A(p.Arg313His)错义变异,其父母基因均为杂合性,根据ACMG指南,该变异被判断有致病性。结论NR5A1基因c.938G>A(p.Arg313His)错义变异可能为性发育异常的遗传学病因。上述发现进一步拓展了NR5A1基因的变异谱。ObjectiveTo make genetic analysis on a child with 46,XY sexual dysplasia caused by a new mutation of NR5A1 gene,to clarify its genetic cause,and to discuss the sex selection of the disease.MethodsThe clinical data of children were collected,and the peripheral blood of children and their parents were collected for full exon gene sequencing and Sanger sequencing.ResultsThe external genital phenotype of the child was normal female,but the male gonadal tissue was seen in laparoscopic exploration,and the uterus and bilateral appendages were not seen.WES sequencing results showed that the patient had c.938G>A(p.Arg313His)missense mutation in exon 5 of NR5A1 gene(NM_004959.5).Both of his parents were heterozygous.According to ACMG guidelines,this variant is judged to be pathogenic.ConclusionThe missense variation of NR5A1 gene c.938G>A(p.Arg313His)may be the genetic cause of sexual development abnormality.These findings further expand the variation spectrum of NR5A1 gene.

关 键 词：性发育异常 NR5A1基因 新变异 性别选择 

分 类 号：R725.9[医药卫生—儿科]