Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing.
10.3760/cma.j.issn.1003-9406.2019.07.007
- Author:
Huanhuan WANG
1
;
Wenting JIANG
;
Mengyao DAI
;
Bing XIAO
;
Yan XU
;
Yu SUN
;
Yu LIU
;
Xiaomin YING
;
Yunlong SUN
;
Wei WEI
;
Xing JI
Author Information
1. Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China. jixing@xinhuamed.com.cn.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
diagnosis;
genetics;
Cerebellum;
abnormalities;
Eye Abnormalities;
diagnosis;
genetics;
Humans;
Kidney Diseases, Cystic;
diagnosis;
genetics;
Membrane Proteins;
genetics;
Mutation;
Pedigree;
Retina;
abnormalities;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(7):686-689
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).
METHODS:Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.
RESULTS:Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.
CONCLUSION:The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
