Taxon:

Human

Gene:

"Cerebal Palsy", KANK1

Chromosome:

09

Location:

9p24.3

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).

Category:

Parental effect

Record:

1242

Last Modified 6/27/2010

Links:

Gene   OMIM  


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