Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13
10.3760/cma.j.cn511374-20230601-00331
- VernacularTitle:Joubert综合征13型1例胎儿的 TCTN1基因变异分析
- Author:
Jingjing XIANG
1
;
Lili ZHANG
;
Yang DING
;
Ting WANG
Author Information
1. 南京医科大学附属苏州医院 苏州市立医院生殖与遗传中心，苏州 215002
- Keywords:
Joubert syndrome;
TCTN1 gene;
Novel variant;
Whole exome sequencing
- From:
Chinese Journal of Medical Genetics
2024;41(8):957-961
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and genetic basis for a fetus with Joubert syndrome.Methods:A pregnant woman who had visited Suzhou Municipal Hospital on February 26, 2021 was selected as the study subject. The fetus and her parents were subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. cDNA analysis of her father and RNA sequencing of her sister were also carried out.Results:The fetus was found to harbor compound heterozygous variants of the TCTN1 gene, namely c. 624G>A and c. 96dupA (p.Glu33Argfs*49), which were inherited from her father and mother, respectively. Her sister also carried the paternal c. 624G>A variant, and mRNA transcripts with the c. 624G>A variant of the TCTN1 gene were not detected by cDNA analysis of her father and RNA sequencing of her sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 624G>A and c. 96dupA variants were both classified as likely pathogenic (PVS1+ PM2_Supporting). Conclusion:The compound heterozygous variants of the TCTN1 gene probably underlay the pathogenesis in this fetus. Above finding has also expanded the mutational spectrum of the TCTN1 gene.
