Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 686-689, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771939
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Retina
/
Congenital Abnormalities
/
Abnormalities, Multiple
/
Cerebellum
/
Eye Abnormalities
/
Diagnosis
/
Kidney Diseases, Cystic
/
Exome Sequencing
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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