CDKL5 Proband Entry



Entry ID: cp421

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: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - 1.6 Mb deletion at Xp22.13 encompassing the whole CDKL5 gene, as well as NHS

Method of testing: array CGH, not known

Source of DNA: not stated

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. (2013) Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 71:414-415. Pubmed ID: 23828526

Publication ID: Case 2

Comments:

Entry last updated on: 2014-10-31 04:40:12

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 - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
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

Displaying a total number of 4 proband entries.