Townes-Brocks syndrome, caused by mutations in SALL1, is mainly characterised by limb, renal, auditory and/or anal defects. Reports of neural deficits are rare, but new data on a mouse model of Sall1 deficiency suggest that cognitive or behavioural abnormalities might be under-diagnosed in patients. Harrison et al. show that neural progenitor cells in Sall1−/− mice differentiate or proliferate abnormally at different stages of embryonic development. Notably, the cerebral cortex (a brain region controlling higher-order thought processing, memory and emotion) is particularly sensitive to Sall1 deficiency. Thus, further investigation of cognitive and behavioural function in Sall1−/− mice – and in individuals with Townes-Brocks syndrome – is warranted. Page 351

Written by editorial staff. © 2012. Published by The Company of Biologists Ltd
2012
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