CYP21A2基因复合杂合变异导致21-羟化酶缺陷症1例  

A case of 21-hydroxylase deficiency caused by compound heterozygous mutations in CYP21A2 gene

作　　者：严荣 花兰[1] 曾君[1] 吴志强 陈建林[1] 黄华林 Yan Rong;Hua Lan;Zeng Jun;Wu Zhiqiang;Chen Jianlin;Huang Hualin(Reproductive Medicine Center,Department of Obstetrics and Gynecology,the Second Xiangya Hospital,Central South University,Changsha 410011,China;Hangzhou Xiangyin Medical Laboratories Ltd,Hangzhou 311215,China)

机构地区：[1]中南大学湘雅二医院妇产科生殖医学中心,长沙410011 [2]杭州祥音医学检验实验室有限公司,杭州311215

出　　处：《中华围产医学杂志》2024年第12期1076-1079,共4页Chinese Journal of Perinatal Medicine

基　　金：国家重点研发计划(2022YFC2505203);湖南省自然科学基金面上项目(2022JJ30066);湖南省自然科学基金重大项目(揭榜制)(2021JC0003);湖南省卫生健康委一般项目(202205033471);湖南省科技厅高层次人才项目(2021RC3031);湖南省重点实验室开放课题(HPKL2023013)。

摘　　要：患儿因“生后发现外生殖器畸形26 d”于中南大学湘雅二医院就诊,通过多重连接探针扩增+Sanger测序及全基因组测序对患儿及其父母进行基因检测,发现患儿存在CYP21A2基因复合杂合变异。因具体变异位点不详,通过三代基因测序技术中的单分子实时测序检出患儿存在CYP21A1P/CYP21A2融合基因嵌合体-8型变异与c.332_339del的复合杂合变异。基因型与表型相符,患儿确诊为失盐型21-羟化酶缺陷症,给予氢化可的松及氟氢可的松替代治疗,病情得到有效控制。患儿8月龄行矫正外生殖器外观手术,预后良好。A female infant with ambiguous genitalia,identified at 26 days postnatal,was admitted to the Second Xiangya Hospital,Central South University.Genetic testing was performed on the child's pedigree using multiplex ligation-dependent probe amplification,Sanger sequencing,and whole genome sequencing,which revealed a compound heterozygous variation in the CYP21A2 gene.The specific mutation sites were indeterminate,and third-generation gene sequencing technology,single-molecule real-time sequencing,subsequently identified a chimera-8 type variant of CYP21A1P/CYP21A2 fusion gene and a c.332_339del compound heterozygous variation in the infant.The genotype matched the phenotype,leading to a diagnosis of salt-wasting 21-hydroxylase deficiency,a rare genetic disorder.The infant was treated with hydrocortisone and fludrocortisone replacement therapy,which effectively controlled the condition.At 8 months old,the infant underwent surgery to correct the appearance of the external genitalia,with a favorable prognosis.

关 键 词：CYP21A2基因 21-羟化酶缺陷症 单分子实时测序 

分 类 号：R725.9[医药卫生—儿科]