Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome.
10.3760/cma.j.issn.1003-9406.2020.04.017
- Author:
Yuefang LIU
1
;
Jing DING
;
Yuan PENG
;
Zhe LIANG
;
Nannan YAN
;
Xin JIN
;
Fang FANG
;
Xiaojing WENG
;
Qiong PAN
Author Information
1. Department of Clinical Genetics, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China. jonespan@163.com.
- Publication Type:Case Reports
- MeSH:
Codon, Nonsense;
Eyelashes;
abnormalities;
Female;
Forkhead Transcription Factors;
genetics;
metabolism;
Gene Expression;
Genetic Testing;
Genetic Variation;
Humans;
Lymphedema;
genetics;
Pedigree;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2020;37(4):434-437
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).
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.
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.
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.
