TBX3基因突变导致Ulnar-Mammary综合征一例的临床及分子遗传学分析并文献复习  

Clinical and genetic analysis of Ulnar-Mammary syndrome caused by TBX3 de novo mutation in a boy and literature review

作　　者：王晓艳 陈秀丽[1] 吴海瑛[1] 谢蓉蓉[1] 王凤云[1] 陈婷[1] 孙辉[1] 张丹丹 陈临琪[1] Wang Xiaoyan;Chen Xiuli;Wu Haiying;Xie Rongrong;Wang Fengyun;Chen Ting;Sun Hui;Zhang Dandan;Chen Linqi(Department of Endocrinology,Genetics and Metabolism,Children′s Hospital of Soochow University,Suzhou 215003,China)

机构地区：[1]苏州大学附属儿童医院内分泌遗传代谢科,215003

出　　处：《中华内分泌代谢杂志》2020年第7期593-597,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的总结并分析Ulnar-Mammary综合征(UMS)的临床及遗传学特点。方法对2018年5月苏州大学附属儿童医院内分泌遗传代谢科收治的1例UMS患儿的临床资料及基因检测结果进行总结分析,检索数据库,对2019年7月前报道的UMS病例进行文献复习。结果患儿男性,12岁8个月,因身材矮小就诊。身高148.9 cm(<-1 SD),前额高,内眦赘皮,朝天鼻,高颚弓,牙列拥挤,无乳头,乳晕色浅,无腋毛;生长激素激发试验峰值<5 ng/ml,人重组生长激素治疗1年,身高得到改善。基因检测结果显示,患儿TBX3基因变异,变异位点为c.711DelC(p.N238Mfs*4),为致病的新变异,父母均未检测到此位点突变。结论临床上矮小伴面容特殊,外生殖器、汗腺及乳腺发育不良需要考虑UMS,TBX3为致病基因。Objective To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS),and to review the literature.Methods The clinical and genetic data of a boy with UMS,who was admitted to the Department of Endocrinology,Genetics and Metabolism,Children′s Hospital of Soochow University in May 2018 were analyzed.Original papers on UMS published up to July 2019 were retrieved.Results A male patient at the age of 12 years and 8 months visited us for growth retardation.He presented with high forehead,epicanthic folds,broad nasal tip,anteverted nostrils,high palate,dental crowding,mammary gland hypoplasia,and absence of axillary hairs,with height 148.9 cm(<-1 SD).Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak<5 ng/ml).After one year of treatment with recombinant human growth hormone,his height was improved.Gene sequencing identified a de novo heterozygous mutation of TBX3 c.711DelC(p.N238Mfs*4).According to ACMG guidelines in 2015,the mutation is pathogenic and has not been reported in the above databases.However,this mutation was not detected in his parents.Conclusion UMS should be considered in dwarfism with special face,dysplasia of external genitalia,sweat glands,and mammary glands,and TBX3 is a pathogenic gene.

关 键 词：Ulnar-Mammary综合征 TBX3基因 治疗 

分 类 号：R725.8[医药卫生—儿科]