ArticleGenes2025
Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
15 authors.
Funding
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Abstract
BACKGROUND/
objectivesX-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare monogenic disorder characterized by hypohidrosis, hypotrichosis, and hypodontia, caused primarily by pathogenic variants in the
methodsNon-invasive prenatal test and targeted next-generation sequencing (NGS) of Cell-free DNA identified an hemizygous
resultsThis in-frame deletion affects a highly conserved region in the TNF homology domain of ectodysplasin-A1, likely compromising protein function. The variant was confirmed in both fetuses via genetic analysis on amniotic fluid and in the heterozygous state in the mother, consistent with X-linked recessive inheritance. Family history revealed a maternal uncle with XLHED. Additional heterozygous variants were also identified in
conclusionsThis case underscores the value of applying advanced genomic technologies-cfDNA-based NGS-for prenatal diagnosis of rare genetic disorders. The identification of apathogenic
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