Targeted syndrom under study
Townes Brocks syndrome / SALL1 / OMIM107480
Abstract
Townes Brocks syndrome is a rare autosomal dominant condition characterized by the association of thumb abnormalities, hearing loss with ear dysplasia and imperforate anus. Kidney, heart and genital defects have also been reported. This syndrome is due to heterozygous SALL1alterations. Literature about genotype-phenotype correlation and evolution of the phenotype is limited.
We collected a series of patients analysed in our molecular Genetics laboratory in Lille (France). We aim to collect clinical and molecular data of more patients with Townes Brocks syndrome, in order to precise the phenotype notably the ear and kidney phenotype and discuss management guidelines.
Coordinating clinicians/researchers
Dr Clémence VANLERBERGHE – clemence.vanlerberghe@chu-lille.fr
fiona.leduc@chu-lille.fr
Institution
Department of Clinical Genetics, Lille University Hospital, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No