De novo mutations in the nBAF subunit CREST has been found in a trio sequencing study of sporadic amyotrophic lateral sclerosis (ALS) (Chesi et al., 2013). ALS is a fatal late-onset neurodegenerative disease in which specific death of motor neurons causes progressive paralysis and death (Rowland and Shneider, 2001). From 47 ALS patients, one missense mutation (p.Ile123Met) and one nonsense mutation (p.Gln388*) in CREST have been found. These mutations may warrant further investigation since CREST function is important for neuronal maturation (Aizawa et al., 2004; Wu et al., 2007; Staahl et al., 2013); intriguingly, the nonsense mutation lies in the C-terminal end of the protein required for binding CBP (Aizawa et al., 2004).
