Gene/phenotype/disorder under study
LRRC8C (OMIM *612889) / TIMES Syndrome (OMIM #621056)
Abstract
TIMES syndrome is a rare congenital disorder affecting blood vessels, brain, eyes, and bones and characterized by Teleangiectasia, Intellectual disability, Microcephaly, Metaphyseal bone dysplasia, Eye anomalies, Short stature and a specific facial appearance. The patients have de novo variants (missense and fs/stop) in a specific region (amino acids 388 to 405) of the LRRC8C gene, encoding a subunit of Volume-Responsive Anion Channels (VRACs) channels of the cell membrane that are activated by external hypotonic conditions and allow the cell to discharge water and solubles and protect itself from osmotic swelling.
The aim of this call is to expand the knowledge on this syndrome, define the clinical variability and its possible evolution, with the aim to establish a specific management for the affected individuals, clarify a possible genotype-phenotype association and drive further studies in order to better define the pathogenic basis of the disease.
Coordinating clinicians
Dr. Livia Garavelli – livia.garavelli@ausl.re.it
Dr Francesca Peluso – francesca.peluso@ausl.re.it
Prof Andrea Superti-Furga – andrea.superti-furga@unil.ch
Prof Sheila Unger – s.unger@genetica.ch
Institutions
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Switzerland; Genetica AG, Zurich and Lausanne, Switzerland
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