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[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 434-437. - Publication Year :
- 2020
-
Abstract
- Objective: To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).<br />Methods: Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.<br />Results: The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.<br />Conclusion: The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 37
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 32219830
- Full Text :
- https://doi.org/10.3760/cma.j.issn.1003-9406.2020.04.017