Antonio Vitobello

May 26, 2024 | nature.com | Éléonore Viora-Dupont |Gaetan Lesca |Antonio Vitobello |Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them | +10 more

AbstractGeneration and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results.

Apr 2, 2024 | nature.com | Alix Paulet |Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam | +11 more

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01560-8, published online 15 February 2024In the original version of this article, the given and family names of Samuel Groeschel were incorrectly structured. The name was displayed correctly in all versions at the time of publication.

Feb 14, 2024 | nature.com | Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam |Francis Ramond | +11 more

AbstractTranslation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients.

Jun 21, 2023 | nature.com | Stephanie Valence |Fowzan S. Alkuraya |Enrico Bertini |Elise Brischoux-Boucher |Ange-Line Bruel |Alfredo Brusco | +27 more

AbstractBRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.

Feb 6, 2023 | nature.com | Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them |Antonio Vitobello |Amélie Piton |Pierre-Yves Maillard | +10 more

AbstractHaploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date.