Targeted gene & phenotype under study:
NTNG2 (MIM #618689)
Neurodevelopmental disorder with behavioural abnormalities, absent speech, and hypotonia (MIM #618718)
Abstract
Bi-allelic variants in NTNG2 are linked to a neurodevelopmental disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia (often with inability to walk), and significant behavioral abnormalities, including autism spectrum disorder features reminiscent of Rett syndrome. Since 2019, 28 cases with bi-allelic NTNG2 variants have been reported across four publications. However, the full phenotypic spectrum, including movement disorders and milder ambulatory cases, has not yet been fully described.
We seek to identify additional cases with bi-allelic NTNG2 variants (uncertain significance, likely pathogenic, or pathogenic) to further characterize the clinical and genetic spectrum of NTNG2-associated neurodevelopmental disorder.
Coordinating team
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Dr. Tuğçe Aksu Uzunhan – tugce.uzunhan@atlas.edu.tr
Institutions
UCL Queen Square Institute of Neurology, Department of Neuromuscular Diseases
Istanbul Atlas University, Department of Pediatric Neurology
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No