Prenatal diagnosis of a fetus with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect variant of EDA gene in a fetus with absence of germ teeth detected by prenatal ultrasonography.@*METHODS@#Clinical data and amniotic fluid and peripheral venous blood samples of the pregnant woman were collected for the analysis. Following extraction of genome DNA, the coding regions of the EDA gene were amplified by PCR and subjected to next-generation sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The pregnant woman was found to carry a heterozygous c.574G>A variant in the EDA gene, for which the fetus was hemizygous. Bioinformatic analysis suggested the variant to be pathogenic.@*CONCLUSION@#Combined ultrasonographic and genetic findings suggested the fetus is affected with X-linked hypohidrotic ectodermal dysplasia due to pathogenic variant of the EDA gene.