DMRT1单倍体不足导致性发育异常  

Disorders of sexual development caused by haploinsufficiency of DMRT1 gene

作　　者：茅江峰[1] 王曦[1] 聂敏[1] 伍学焱[1] 

机构地区：[1]北京协和医院内分泌科国家卫生与计划生育委员会内分泌重点实验室,北京100730

出　　处：《基础医学与临床》2016年第1期104-106,共3页Basic and Clinical Medicine

摘　　要：目的增加对DMRT1基因单倍体不足导致性发育异常的认识,提高性发育异常疾病的诊断水平。方法描述1例染色体为46XY性发育异常患者的临床特点;对患者及其父母的静脉血进行淋巴细胞培养和染色体核型分析;抽取患者外周血,提取基因组DNA,进行微阵列比较基因组杂交技术(a CGH)扫描。结果 1)患者表现为女性外阴,超声未见子宫和卵巢组织;伴随发育延迟和运动迟缓;临床表现符合"9p缺失综合征";2)染色体结果:患者母亲46XX,t(7;9)(q35,p24);父亲46XY;患儿46XY,der(9)t(7;9)(q35,p24);3)a CGH扫描结果:患儿第7号染色体长臂部分(144741153-159098761)重复,长约14.37 Mb;第9号染色体短臂部分(10001-9733061)缺失,长约9.72 Mb,缺失部分包含EZH2、MNX1、DMRT1、DMRT2、SHH、SMARCA2、GLDC、VLDLR、DOCK8和GLIS3基因。结论 DMRT1在性腺发育过程中发挥重要作用。母亲染色体发生平衡易位,因无遗传物质丢失,故不导致疾病发生。在产生配体过程中,因DMRT1单倍体剂量不足,导致子代睾丸发育障碍。Objective To increase the knowledge on disorders of sex development（ DSD） caused by DMRT1 haploinsufficiency. Methods Clinical features in a patient with 46 XY DSD were described. Peripheral lymphocytic karyotype was measured in this patient and her parents. Furthermore,array comparative genomic hybridization（ a CGH） was done for the patient. Results 1） Clinical features： the patient presented with female genital,and neither uterus nor ovaries were detected by B ultrasound. Mental and physical development retardation was observed,consisted with the manifestation of 9p deletion syndrome. 2） Karyotype： Her mother was 46 XX,t（ 7; 9）（ q35,p24）; Her father was 46XY; The patient was 46 XY,der（ 9） t（ 7; 9）（ q35,p24）;（ 3） a CGH scan：14. 37 Mb triplication was fond in the terminal of 7q（ 144741153- 159098761）; 9. 72 Mb deletion was found in the terminal of 9p（ 10001- 9733061）,containing the following genes,EZH2,MNX1,DMRT1,DMRT2,SHH,SMARCA2,GLDC,VLDLR,DOCK8 and GLIS3. Conclusions DMRT1 gene plays an essential role in gonadal development. Haploinsufficiency in this gene may result in testicular dysplasia and DSD.

关 键 词：9染色体 性发育异常 DMRT1基因 单倍体剂量不足 

分 类 号：R588[医药卫生—内分泌]