CDKL5 Proband Entry
Entry ID: cp456
Systematic name: c.175C>T
Protein name: p.Arg59*
Alternate name(s): p.R59X
Mutation type: nonsense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - 51:49
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: rs62653623
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 7
Comments:
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.175C>T | p.Arg59* | Not Rett syndrome - epileptic encephalopathy | Female | 16611748 Archer et al (2006) | cp48 |
c.175C>T | p.Arg59* | Rett syndrome - atypical | Female | 19740913 Ricciardi et al (2009) | cp107 |
c.175C>T | p.Arg59* | Rett syndrome - early-onset seizures | Female | 20493745 Castren et al (2011) | cp195 |
c.175C>T | p.Arg59* | Not Rett syndrome - early-onset epilepsy | Male | 23583054 Mirzaa et al (2013) | cp413 |
Displaying a total number of 4 proband entries.