A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity
We found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a <i>STAG1</i> variant. These findings highlight the variability of the <i>STAG1</i>-associated phenotype or a probable role of associated variants (like the discovered 15q13.3 microduplication) in modulating the clinical features.
Authors
- Achille Iolascon (ORCID: https://orcid.org/0000-0002-9558-0356)
- Immacolata Andolfo (ORCID: https://orcid.org/0000-0003-0493-812X)
- Carmelo Piscopo
- Raffaele Piscopo (ORCID: https://orcid.org/0000-0001-6109-8046)
- Lorenzo Cipriano (ORCID: https://orcid.org/0000-0002-5651-4970)
- Roberta Russo (ORCID: https://orcid.org/0000-0002-3624-7721)
- Mariangela Manno
Institutions
- Ospedale Antonio Cardarelli (IT)
- Federico II University Hospital (IT)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-09-09
- DOI
- https://doi.org/10.3390/genes15091184
- Citations
- 5
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 2.75