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


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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