Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 434-437, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-828307
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Prenatal Diagnosis
/
Congenital Abnormalities
/
Genetic Variation
/
Gene Expression
/
Genetic Testing
/
Codon, Nonsense
/
Forkhead Transcription Factors
/
Eyelashes
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
Similar
MEDLINE
...
LILACS
LIS