CDKL5 Proband Entry



Entry ID: cp92

Systematic name: c.-253-?_-163+?del

Protein name: p.0?

Alternate name(s): 5'UTR variation (deletion of exons 1, 1a, 1b)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset encephalopathy

Other mutation:

X-inactivation results: Yes - 55:45

Chromosomal abnormality: Yes - 45 kb deletion affecting CDKL5 Exons 1, 1a, 1b, extends at least 16.2 kb into intron 1

Method of testing: MLPA, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:06:39

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_-163+?del p.0? Not Rett syndrome - epileptic encephalopathy Male 21770923 Liang et al (2011) cp295

Displaying a total number of 1 proband entries.