一例无肛门闭锁的Townes-Brocks综合征患儿的SALL1基因变异分析  

Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia

作　　者：魏海霞 孙良忠 李敏[1] 陈华木 韩伟 付文君 钟静琳 Wei Haixia;Sun Liangzhong;Li Min;Chen Huamu;Han Wei;Fu Wenjun;Zhong Jinglin(Department of Pediatrics,Nanfang Hospital,Southern Medical University,Guangzhou,Guangdong 510515,China)

机构地区：[1]南方医科大学南方医院儿科,广州510515

出　　处：《中华医学遗传学杂志》2022年第4期401-404,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81670610);广东省自然科学基金(2020A1515010286)。

摘　　要：目的分析1例以肾衰竭、多囊性肾发育不良起病,无肛门闭锁Townes-Brocks综合征患儿的临床特征与基因突变特点,为家系的遗传咨询和产前诊断提供依据。方法抽取患儿及其父母的外周血行全外显子测序及Sanger验证。结果患儿为40天龄的男孩,生后7天因呕吐咖啡色物于当地医院就诊,后以"肾衰竭"转入本院。检查发现肾衰竭、多囊性肾发育不良、先天性甲状腺功能减退,伴双侧拇指多指、感音神经性听力下降、耳前皮赘。基因检测显示SALL1基因移码突变(c.824delT,p.L275Yfs*10),Sanger测序验证为新发变异。结论患儿确诊为SALL1基因新发变异所致的Townes-Brocks综合征,无肛门闭锁Townes-Brocks综合征临床较罕见,该变异尚未见国内外报道,丰富了SALL1基因的变异谱。Objective To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.Methods Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing.Candidate variant was verified by Sanger sequencing.Results The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure.Clinical examination has discovered renal failure,polycystic renal dysplasia,congenital hypothyroidism,bilateral thumb polydactyly,sensorineural hearing loss and preauricular dermatophyte.Genetic testing revealed that he has harbored a previously unreported c.824delT,p.L275Yfs*10 frameshift variant of SALL1 gene,which was confirmed by Sanger sequencing as de novo.Conclusion The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene.Townes-Brocks syndrome without anal atresia is rare.Above finding has also enriched the mutational spectrum of the SALL1 gene.

关 键 词：Townes-Brocks综合征 肾衰竭 SALL1基因 多囊性肾发育不良 

分 类 号：R725.9[医药卫生—儿科]