Article
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.
Clinical genetics - 1 Oct 2026
Vanden Eynde Nathalie, Hérissant Lucas, Landais Emilie, Egloff Matthieu, Rio Marlène, Baujat Geneviève, Giuliano Fabienne, Karmous-Benailly Houda, Coutton Charles, Satre Véronique, Vieville Gaëlle, Kuentz Paul, Nizon Mathilde, Beneteau Claire, Isidor Bertrand, Callier Patrick, Marquet Valentine, Bieth Eric, Lévy Jonathan, Tabet Anne-Claude, Cartault François, Scheidecker Sophie, Gouronc Aurélie, Schalk Audrey, Angélini Chloé, Pennamen Perrine, Rooryck Caroline, Trajkova Slavica, Gagachovska Biljana, Shrom-Model Brynn, Braddock Stephen R, Hillman Paul, Liu Lingying, Fenger Christina Dühring, Hammer Trine Bjørg, Schanze Ina, Zenker Martin, Doco-Fenzy Martine, Poirsier Céline, Jouret Guillaume
Abstract excerpt
Nuclear factor I (NFI) transcription factors regulate neural stem and progenitor differentiation during brain development. While NFIA, NFIB, and NFIX are linked to neurodevelopmental disorders, the role of NFIC (MIM: 600729) in human disease remains unclear. This study aimed to determine whether NFIC contributes to a neurodevelopmental syndrome, define its phenotype, and assess dosage-dependent effects. We...
Read the complete abstract on PubMedTopics
- Humans
- Intellectual Disability
- NFI Transcription Factors
- Megalencephaly
- Female
- Male
- Phenotype
- Genetic Association Studies
- Syndrome
- Polymorphism, Single Nucleotide
- Child
- Animals
- Child, Preschool
- Chromosomes, Human, Pair 19
- Mice
- Adolescent