新复合杂合基因突变致非经典21-羟化酶缺陷症1例报告并文献复习  

NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS:A CASE REPORT AND LITERATURE REVIEW

作　　者：祁梦梦 王雪梅[2] 刘云婷 王倩[1] 辛倩玉 林华[1] 吕文山[1] 杨丽丽[4] QI Mengmeng;WANG Xuemei;LIU Yunting;WANG Qian;XIN Qianyu;LIN Hua;LYU Wenshan;YANG Lili(Department of Endocrinology and Metabolism Diseases,The Affiliated Hospital of Qingdao University,Qingdao 266003,China)

机构地区：[1]青岛大学附属医院内分泌与代谢性疾病科,山东青岛266003 [2]青岛大学附属医院内科学教研室 [3]北京迈基诺基因科技股份有限公司医学检验所 [4]青岛大学附属医院市南院区门诊

出　　处：《精准医学杂志》2023年第6期538-541,共4页Journal of Precision Medicine

基　　金：山东省自然科学基金项目(ZR2017MH069)。

摘　　要：目的 报道1例非经典21-羟化酶缺陷症(21-hydroxylase deficiency, 21-OHD)患者的基因类型,丰富该类疾病的遗传数据库。方法 收集我院收治的1例非经典21-OHD患者临床资料,结合基因测序结果,以明确诊断。采集其亲属外周血,针对CYP21A2进行高通量基因测序,并结合相关文献进行复习。结果 患者,女,16岁,临床表现为阴蒂肥厚,无月经来潮,多毛、痤疮,青春前期身体呈生长加速现象,骨龄提前。基因检测结果显示,CYP21A2基因有两个复合杂合变异[错义突变c.1451G>A(p:R484Q),缺失突变deletion exon 1~3]。通过对其家系进行测序,发现错义突变c.1451G>A(p:R484Q)来自于其外祖父及母亲,而缺失突变deletion exon 1~3来自于其祖母和父亲。结论 发现了1例新复合杂合基因突变致非经典21-羟化酶缺陷症患者,丰富了21-OHD致病突变数据库,有助于提高临床医师对该病的认识。Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency(21-OHD)for enriching the genetic database of this disease.Methods The clinical data and gene sequencing results of a patient with non-classic 21-OHD admitted to our hospital were collected.The patient’s relatives underwent high-throughput CYP21A2 gene sequencing using peripheral blood.At the same time,a literature review was performed.Results This 16-year-old female patient presented with clitoral hypertrophy,primary amenorrhea,hirsutism,acne,and growth acceleration during pre-puberty with advanced bone age.Gene testing results showed that the CYP21A2 gene had two compound heterozygous mutations:A missense mutation,c.1451G>A(p:R484Q);and a deletion mutation,deletion exon 1-3.Her relatives’sequencing results indicated that the missense mutation c.1451G>A(p:R484Q)originated from her maternal grandfather and mother,and the deletion mutation deletion exon 1-3 inherited from her paternal grandmother and father.Conclusion We discovered a case of non-classic 21-OHD caused by new compound heterozygous gene mutations,which enriched the pathogenic mutation database of 21-OHD and could help improve clinicians’understanding of the disease.

关 键 词：肾上腺增生 先天性 类固醇21-羟化酶 CYP21A2基因 非经典21-羟化酶缺乏症 高通量核苷酸序列分析 突变 

分 类 号：R586.22[医药卫生—内分泌] R394[医药卫生—内科学]