Description: In a family with familial cerebral palsy, the nine affected children all inherited the causative 225
kb deletion paternally (Lerer
I et
al, 2005). Absence of expression of KANK1 in lymphoblastoid cells from affected individuals
raised the possibility that KANK1 is maternally suppressed. However, in the control group and in
healthy fathers monoallelic, non-imprinted, expression was observed. Expression of KANK1 did not
correlate with DNA methylation at the 5' CpG
islands. The 3' DMTR1 gene CpG islands were hypomethylated in affected and control individuals, but
hypermethylated in cis with
the deletion. The authors postulate that if hypomethylation of the deletion allele occurs, this may
result in transcription of a long
putative sequence that represses expression of KANK1 (Lerer I et al, 2005). |