CDKL5 Proband Entry
Entry ID: cp140
Systematic name: c.[=/99+5G>A]
Protein name: p.[=/Ala23Asnfs*3]
Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)
Mutation type: splicing variant
Domain: ATP binding region
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: DHPLC, not stated
Source of DNA: blood
Familial testing: not found in mother
Familial X-inactivation:
Control screening: not found in 200/200 chromosomes
dbSNP ID:
Source: Masliah-Plachon, J., Auvin, S., Nectoux, J., Fichou, Y., Chelly, J., Bienvenu, T. (2010) Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. American Journal of Medical Genetics Part A 152A:2110-2111. Pubmed ID: 20602487
Publication ID:
Comments: mosaic mutation in a 46,XY male, with 50% level mosaicism in blood and fibroblasts
Entry last updated on: 2014-03-13 06:08:03
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There are no other entries in the database with a similar genotype.