Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA
The study reinforces the hypothesis that cfDNA can be used to identify point mutations, small insertions and/or deletions for the diagnosis of monogenic diseases, reducing the number of invasive tests and the risk of early miscarriages. Early detection of mutations in genes causing sexual development disorders could make it possible to start therapy in the womb.
Authors
- Emanuela Barletta (ORCID: https://orcid.org/0000-0001-7493-1498)
- Nadia Petrillo
- Rossana D’Angelo
- Raffaella Ruggiero
- Alessio Mori
- Rosa Castiello
- Monica Ianniello
- Antonio Fico
- Roberto Sirica (ORCID: https://orcid.org/0000-0002-3923-4889)
- Cristina Ramiro
- Giuliano Pennacchio
- Giovanni Savarese (ORCID: https://orcid.org/0009-0004-5274-3989)
- Stephen W. Marcella
- Roberto Passaro
Institutions
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-03-05
- DOI
- https://doi.org/10.3390/genes16030311
- Citations
- 1
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81