Targeted gene under study:
ITSN1 (OMIM #602442)
Abstract
ITSN1 has been recently described by Bruel et.al. as a novel candidate gene for an autosomal dominant neurodevelopmental disorder characterized by autism spectrum disorders, intellectual disability and epilepsy. In nine out of twelve reported families, truncating variants affecting the first half of the protein were described, while in three out of twelve families missense variants affecting the distal part of the protein were found.
We recently identified a homozygous truncating variant in the C-terminal region of ITSN1 in a patient presenting with intellectual disability, microcephaly, and autism spectrum disorder.
To investigate a potential recessive form of ITSN1-related neurodevelopmental disorder we are collecting clinical and genetic data from patients with homozygous ITSN1 variants, particularly truncating variants affecting the C-terminal region of the gene.
Coordinating team
Pr. Catheline Vilain – Catheline.vilain@hubruxelles.be
Dr.Sebastian Neuens – Sebastian.neuens@hubruxelles.be
Institution
Department of Genetics, Hôpital Universitaire Des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium
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