CDKL5 Proband Entry



Entry ID: cp202

Systematic name: c.-253-?_*1085del

Protein name: p.Met1?

Alternate name(s): p.M1? (whole gene deletion)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Yes - 960 kb deletion at Xp22.3 (including exon 1 of SCML2, CDKL5, RS1, PPEF1, PHKA2, GPR64)

Method of testing: MLPA, CDKL5 point mutation negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Publication ID: Patient 2

Comments:

Entry last updated on: 2014-03-13 06:10:47

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421

Displaying a total number of 4 proband entries.