CDKL5 Proband Entry



Entry ID: cp453

Systematic name: c.119C>T

Protein name: p.Ala40Val

Alternate name(s): p.A40V

Mutation type: missense

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - 43:57

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs122460159

Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952

Publication ID: Patient 2

Comments:

Entry last updated on: 2014-10-31 04:42:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.119C>T p.Ala40Val Rett syndrome - early seizure Female 17993579 Rosas-Vargas et al (2008) cp57
c.119C>T p.Ala40Val Not Rett syndrome - severe epileptic encephalopathy with infantile spasms Female 17993579 Rosas-Vargas et al (2008) cp58
c.119C>T p.Ala40Val Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp199
c.119C>T p.Ala40Val Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp452

Displaying a total number of 4 proband entries.