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: 2018-06-05 13:45:42
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.