05/05/2020 – Search for patients with Wildervanck syndrome

Targeted gene(s)/phenotype under study : 

Ideally patients with the triad, including:

    • cervical vertebral fusion (Klippel-Feil anomaly)
    • bilateral abducens palsy with retracted eyes (Duane syndrome)
    • congenital hearing loss (perceptive and/or transmission)

Abstract : 

The Solve-RD project is aiming at identifying genes in diseases resistant to exome sequencing. Genome analyses are proposed in a cohort of patients with Wildervank syndrome. If DNA is available, there is no need for resampling. Patients with the triad are missing and your collaboration will be highly appreciated. You can also contact us if only two of the three typical signs are available.

Coordinating clinician:  Pr Laurence Faivre

Institution:  CHU Dijon/France

Contact: laurence.faivre@chu-dijon.fr

Specific requirements beyond clinical data and genotype data sharing:

Re-analysis of DNA samples: Y

Resampling of patients: N

Linked to a translational/basic research project? Y