CDKL5 Proband Entry
Entry ID: cp335
Systematic name: c.532C>T
Protein name: p.Arg178Trp
Alternate name(s): p.R178W
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early-onset seizure
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: not stated, not known
Source of DNA: not certain
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608493
Source: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436
Publication ID: Patient 4 (#1322)
Comments: also reported in Pini et al (2012) PMID: 22430159, case 1
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.532C>T | p.Arg178Trp | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp98 |
c.532C>T | p.Arg178Trp | Rett syndrome - congenital onset | Female | Directly submitted | cp265 |
c.532C>T | p.Arg178Trp | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp455 |
Displaying a total number of 3 proband entries.