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