Clinical Genetics
Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia
Wei Haixia, Sun Liangzhong, Li Min, Chen Huamu, Han Wei, Fu Wenjun, Zhong Jinglin
Published 2022-04-10
Cite as Chin J Med Genet, 2022, 39(4): 401-404. DOI: 10.3760/cma.j.cn511374-20200831-00637
Abstract
ObjectiveTo explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.
MethodsPeripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.
ResultsThe 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.
ConclusionThe 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.
Key words:
Townes-Brocks syndrome; Renal failure; SALL1 gene; Multi-cystic dysplastic kidney
Contributor Information
Wei Haixia
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Sun Liangzhong
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Li Min
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Chen Huamu
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Han Wei
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Fu Wenjun
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
Zhong Jinglin
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China
