An international multicentre study describes a rare disease characterized by a series of recognizable facial features, cardiac defects and intellectual disability, which they propose to name as TRAF7 syndrome -according to the name of the gen that causes this pathology.
The study, published in the journal Genetics in Medicine, is led by a team of the Faculty of Biology of the University of Barcelona and the Institute of Biomedicine of the University of Barcelona (IBUB), the Rare Diseases Networking Biomedical Research Centre (CIBERER) and the Research Institute Sant Joan de Déu (IRSJD), in collaboration with experts from the French Institute of Health and Medical Research (INSERM).
In this research, the experts identified forty-five patients -who were not diagnosed before- with whom they could gain knowledge on this new syndrome, so far defined with an only previous article based on the study of seven people.
With the analysis of new patients, the authors described the clinical picture associated with the TRAF7 syndrome, featured by intellectual disability, motor delay, specific facial features, hearing loss, a heart congenital malformation -patent ductus arteriosus- and skeletal defects in fingers, neck and chest.
Reference article:
Castilla-Vallmanya, L.; K. Selmer, K.; T. Gordon, C. et al. “Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7”. Genetics in Medicine, May, 2020. Doi: 10.1038/s41436-020-0792-7
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