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
em Zh
| WPRIM
| ID: wpr-828307
Biblioteca responsável:
WPRO
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.
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1
Índice:
WPRIM
Assunto principal:
Linhagem
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Diagnóstico Pré-Natal
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Anormalidades Congênitas
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Variação Genética
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Expressão Gênica
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Testes Genéticos
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Códon sem Sentido
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Fatores de Transcrição Forkhead
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Pestanas
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Genética
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Article