CDKL5 Proband Entry



Entry ID: cp31

Systematic name: c.215T>A

Protein name: p.Ile72Asn

Alternate name(s): p.I72N

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early seizure

Other mutation:

X-inactivation results: Yes - 74:26

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 184/184 chromosomes

dbSNP ID: rs62641235

Source: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

Publication ID: 3

Comments:

Entry last updated on: 2014-03-13 06:05:23

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