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[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10; 36(7):686-689.ZY

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.

Authors+Show Affiliations

Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China. jixing@xinhuamed.com.cn.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

31302911

Citation

Wang, Huanhuan, et al. "[Diagnosis of Two Cases From One Family With Joubert Syndrome Caused By Novel Mutations of TCTN1 Gene By Whole Exome Sequencing]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 36, no. 7, 2019, pp. 686-689.
Wang H, Jiang W, Dai M, et al. [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36(7):686-689.
Wang, H., Jiang, W., Dai, M., Xiao, B., Xu, Y., Sun, Y., Liu, Y., Ying, X., Sun, Y., Wei, W., & Ji, X. (2019). [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 36(7), 686-689. https://doi.org/10.3760/cma.j.issn.1003-9406.2019.07.007
Wang H, et al. [Diagnosis of Two Cases From One Family With Joubert Syndrome Caused By Novel Mutations of TCTN1 Gene By Whole Exome Sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):686-689. PubMed PMID: 31302911.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]. AU - Wang,Huanhuan, AU - Jiang,Wenting, AU - Dai,Mengyao, AU - Xiao,Bing, AU - Xu,Yan, AU - Sun,Yu, AU - Liu,Yu, AU - Ying,Xiaomin, AU - Sun,Yunlong, AU - Wei,Wei, AU - Ji,Xing, PY - 2019/7/15/entrez PY - 2019/7/16/pubmed PY - 2019/9/12/medline SP - 686 EP - 689 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 36 IS - 7 N2 - 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. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/31302911/[Diagnosis_of_two_cases_from_one_family_with_Joubert_syndrome_caused_by_novel_mutations_of_TCTN1_gene_by_whole_exome_sequencing]_ L2 - http://www.diseaseinfosearch.org/result/3917 DB - PRIME DP - Unbound Medicine ER -