Genes (Feb 2023)
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation Syndrome
- Emanuele Coccia,
- Lara Valeri,
- Roberta Zuntini,
- Stefano Giuseppe Caraffi,
- Francesca Peluso,
- Luca Pagliai,
- Antonietta Vezzani,
- Zaira Pietrangiolillo,
- Francesco Leo,
- Nives Melli,
- Valentina Fiorini,
- Andrea Greco,
- Francesca Romana Lepri,
- Elisa Pisaneschi,
- Annabella Marozza,
- Diana Carli,
- Alessandro Mussa,
- Francesca Clementina Radio,
- Beatrice Conti,
- Maria Iascone,
- Giancarlo Gargano,
- Antonio Novelli,
- Marco Tartaglia,
- Orsetta Zuffardi,
- Maria Francesca Bedeschi,
- Livia Garavelli
Affiliations
- Emanuele Coccia
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Lara Valeri
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Roberta Zuntini
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Stefano Giuseppe Caraffi
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Francesca Peluso
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Luca Pagliai
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Antonietta Vezzani
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Zaira Pietrangiolillo
- Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Francesco Leo
- Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Nives Melli
- Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Valentina Fiorini
- Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Andrea Greco
- Postgraduate School of Paediatrics, University of Modena and Reggio Emilia, 41121 Modena, Italy
- Francesca Romana Lepri
- Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, Italy
- Elisa Pisaneschi
- Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, Italy
- Annabella Marozza
- Medical Genetics Unit, Careggi University Hospital, 50134 Florence, Italy
- Diana Carli
- Department of Public Health and Pediatric Sciences, Regina Margherita Children’s Hospital, Azienda Ospedaliero-Universitaria di Torino, 10126 Turin, Italy
- Alessandro Mussa
- Department of Public Health and Pediatric Sciences, Regina Margherita Children’s Hospital, Azienda Ospedaliero-Universitaria di Torino, 10126 Turin, Italy
- Francesca Clementina Radio
- Molecular Genetics and Functional Genomics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, Italy
- Beatrice Conti
- Clinical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
- Maria Iascone
- Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy
- Giancarlo Gargano
- Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- Antonio Novelli
- Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, Italy
- Marco Tartaglia
- Molecular Genetics and Functional Genomics, Bambino Gesù Children’s Hospital, IRCCS, 00146 Rome, Italy
- Orsetta Zuffardi
- Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy
- Maria Francesca Bedeschi
- Clinical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
- Livia Garavelli
- Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy
- DOI
- https://doi.org/10.3390/genes14030549
- Journal volume & issue
-
Vol. 14,
no. 3
p. 549
Abstract
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant.
Keywords
- capillary malformation-arteriovenous malformation (CM-AVM)
- <i>RASA1</i>
- prenatal findings
- polyhydramnios
- non-immune fetal hydrops
- chylothorax