CDKL5 Proband Entry



Entry ID: cp91

Systematic name: c.533G>C

Protein name: p.Arg178Pro

Alternate name(s): p.R178P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - Severe encephalopathy and early-onset seizures

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: No

Method of testing: DHPLC, all exons

Source of DNA: blood

Familial testing: not found in healthy mother

Familial X-inactivation:

Control screening: not found in 400/400 chromosomes

dbSNP ID: rs267606715

Source: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:06:39

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.533G>C p.Arg178Pro Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp97

Displaying a total number of 1 proband entries.