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.