Targeted gene/phenotype/disorder under study:
INTS11/ OMIM#620428
Abstract
We have collected/identified >20 new and previously reported affected individuals (from 18 unrelated families) with biallelic pathogenic variants in the INTS11 gene. We are characterizing the molecular and clinical features of INTS11-related disorder.
We would like to identify more new patients with biallelic ultra-rare variants in the gene and further delineate the phenotypic and genetic spectrum of the neurodevelopmental disorder (NDD) that has only recently been linked to INTS11.
We would like to receive detailed clinical and genetic data, and skin biopsies if possible for functional studies. So please get in touch if you have any patients with bi-allelic INTS11 variants presenting with Neurodevelopmental disorder.
Coordinating clinicians
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
Institute of Neurology, University College London, London, UK
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