Targeted gene under study:
* 147545 IRS1 gene # 125853
Abstract
We are planning functional studies of patients with missense, indel and frameshift nonsense homozygous or combined heterozygous variants in the functional regions of the IRS1 gene, who are presenting with dysmorphic facial features such as a triangular face and bulbous nose, short stature, cachectism, and insulin resistance that started in childhood or earlier. We have established a mouse model of this gene for a variant seen in our patient and have multiple mouse models available. It would be great to have you or any other colleague in the platform to refer other patients to identify a new phenotype for the IRS1 gene and to develop the right approach and treatment model for these patients. We would also be happy if you have information or ideas you can share about granting/financial support as well.
Kind regards.
Dr. M. Burak Bereketoğlu
Coordinating clinician
Dr. M. Burak Bereketoğlu – burakbereketoglu@hotmail.com
Institution
Medical Genetics, Ege University, Izmir
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes