Targeted gene under study:
TM2D3
Abstract
We are gathering a series of patients carrying biallelic variants in TM2D3 associated with intellectual disability and malformations. A functional research project is ongoing at CHU Angers by Dr Olivier Baris.
We are looking for other patients carrying a missense variant (specially p.168Asp or p.Thr226Met) associated with a loss-of-function variant. Do not hesitate to contact us for a collaboration.
Coordinating clinician
Mathilde Nizon – mathilde.nizon@chu-nantes.fr
Institution
Genetics Department, CHU Nantes, Nantes, France
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: Yes