非经典21-羟化酶缺乏症的家系研究及相关文献复习  

Non-classical 21-hydroxylase deficiency of a pedigree and related literature review

作　　者：王新玲[1] 赵芳玉 吉米兰木买买提明 陈园[1] 郭艳英[1] Wang Xinling;Zhao Fangyu;Jimilanmu·Maimaitiming;Chen Yuan;Guo Yanying(Department of Endocrinology,People′s Hospital of Xinjiang Uygur Autonomous Region,Urumuqi 830000,China)

机构地区：[1]新疆维吾尔自治区人民医院内分泌科,乌鲁木齐830000

出　　处：《中华内分泌代谢杂志》2019年第10期838-842,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：新疆维吾尔自治区自然科学基金项目(2016D01C115)。

摘　　要：回顾性分析1例非经典21-羟化酶缺乏症(21-OHD)患者的临床资料,采用PCR-DNA直接测序技术对患者及其家系成员进行CYP21A2基因分析。结果发现先证者存在复合杂合突变[点突变:p.Ile173Asn,p.(Ile237Asn,Val238Glu,Met240Lys),p.Val282Leu,p.Gln319Ter,p.Arg357Trp;插入突变:p.Leu308Phefs*6;缺失/插入:p.Arg484Profs]。家系成员中,患者的大姐和4个父系成员均携带单纯的p.Val282Leu杂合突变,患者的二姐及2个母系成员均携带与患者相同p.Val282Leu纯合突变与其他复合杂合突变。先证者呈现为最终正常身高且有生育能力的非经典表型。本研究提示该疾病的潜在表型与其等位基因的残余活性有关,基因型和表型存在明显相关性。The clinical data of a patient with non-classical 21-hydroxylase deficiency(21-OHD)were retrospectively analyzed.The CYP21A2 gene analysis was performed on the patient and his family members by PCR-DNA direct sequencing.It was found that the proband had a heterozygous mutation[point mutation:p.Ile173Asn,p.(Ile237Asn,Val238Glu,Met240Lys),p.Val282Leu,p.Gln319Ter,p.Arg357Trp,insertion mutation:p.Leu308Phefs*6,deletion/insert mutation:p.Arg484Profs].Among the members of the family,the patient′s eldest sister and three paternal members all carried the p.Val282Leu heterozygous mutation,and the patient′s second sister and two maternal members carried the same p.Val282Leu homozygous mutation and other compound heterozygous mutations just as the proband.The proband presented a non-classical phenotype with ultimately normal height and fertility.It is suggested that the potential phenotype of the disease is related to the residual activity of its allele,and there exists a good genotype-phenotype correlation.

关 键 词：先天性肾上腺皮质增生症 非经典21-羟化酶缺乏症 CYP21A2基因 

分 类 号：R73[医药卫生—肿瘤]