Targeted gene under study:
TBX1 (OMIM #602054)
Abstract
Heterozygous TBX1 variants have been previously described to be responsible for heart defects (tetralogy of Fallot) but also hypocalcemia or hypoparathyroidism, and rarely hearing loss but very few patients have been published in the literature. We identified in our center 2 families with TBX1 variants presenting with a phenotype mimicking Di Georges syndrome, without cognitive impairment. We are interested in gathering additional TBX1-mutated patients to precise the phenotype of these patients, notably their hearing impairment, through clinical and radiological examinations. If you would like to participate, please send us an email and we will send you the clinical form to fill in.
Coordinating clinicians
Dr Simon BOUSSION – simon.boussion@chu-lille.fr
Dr Clémence VANLERBERGHE – clemence.vanlerberghe@chu-lille.fr
Institution
Clinique de Génétique, CHU de Lille, Lille, 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: No