CDKL5 Proband Entry



Entry ID: cp141

Systematic name: c.-253-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1 to 3)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - X-linked infantile spasm syndrome

Other mutation:

X-inactivation results: Yes - 90:10

Chromosomal abnormality: Yes - t(X;2)(p22.1;p25.3), translocation of chr2 and chrX, with break point intron 3

Method of testing: karyotype, FISH

Source of DNA: blood

Familial testing: not found in mother

Familial X-inactivation: mother XCI random

Control screening: No

dbSNP ID:

Source: Cordova-Fletes, C., Rademacher, N., Muller, I., Mundo-Ayala, J.N., Morales-Jeanhs, E.A., Garcia-Ortiz, J.E., Leon-Gil, A., Rivera, H., Dominguez, M.G., Kalscheuer, V.M. (2010) CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics 77:92-96. Pubmed ID: 19807736

Publication ID:

Comments: transcript containing 4-21 detected, but initiation AUG uncertain; normal X inactivated

Entry last updated on: 2014-03-13 06:08:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/-253-?_99+?del] p.[=/Met1?] Not Rett syndrome - severe developmental delay with possible regression Male 21293276 Bartnik et al (2011) cp227
c.-253-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977 Erez et al (2009) cp266
c.-253-?_99+?del p.Met1? Rett syndrome - atypical Female Directly submitted cp286

Displaying a total number of 3 proband entries.