Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia.
10.3760/cma.j.cn511374-20200831-00637
- Author:
Haixia WEI
1
;
Liangzhong SUN
;
Min LI
;
Huamu CHEN
;
Wei HAN
;
Wenjun FU
;
Jinglin ZHONG
Author Information
1. Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China. sunlzh2018@smu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
Anus, Imperforate/genetics*;
Child;
Female;
Hearing Loss, Sensorineural/genetics*;
Humans;
Infant;
Infant, Newborn;
Male;
Renal Insufficiency;
Thumb/abnormalities*;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(4):401-404
- CountryChina
- Language:Chinese
-
Abstract:
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.
