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.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):401-404. doi: 10.3760/cma.j.cn511374-20200831-00637.
To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.
Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
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.
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.
探究一名患有肾衰竭、多囊性发育不良肾且无肛门闭锁的儿童的遗传基础。
采集该儿童及其父母的外周血样本，进行全外显子组测序。候选变异通过桑格测序进行验证。
该40日龄婴儿在出生7天时出现呕吐褐色物质，因肾衰竭而转诊。临床检查发现肾衰竭、多囊性肾发育不良、先天性甲状腺功能减退、双侧拇指多指畸形、感音神经性听力损失和耳前皮肤赘生物。基因检测显示，他携带了一个先前未报道的SALL1基因c.824delT、p.L275Yfs*10移码变异，经桑格测序确认为新发变异。
由于SALL1基因的新发变异，该患者被诊断为汤姆斯-布罗克斯综合征。无肛门闭锁的汤姆斯-布罗克斯综合征较为罕见。上述发现也丰富了SALL1基因的突变谱。
