Altered AFF3 function plays role in cognitive impairment
© 2024 EPFL
The Bioinformatics Competence Center (BICC) contributed to the study which provided new insights into the pathophysiology of the KINSSHIP syndrome.
The KINSSHIP syndrome is an autosomal dominant disorder associated with intellectual disability, mesomelic dysplasia and horseshoe kidney, caused by changes in AFF3 function. As a part of larger collaborative team, the BICC contributed to the analysis of the transcriptional profiles of various cellular disease models that revealed that even minor changes in AFF3 function are deleterious.
For more information please see this news release.
References
Bassani, S., et al. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome Medicine (2024)