CDKL5 Proband Entry

Entry ID: cp267

Systematic name: c.-162-?_145+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1a to 4)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: Yes - uninformative

Chromosomal abnormality: Yes - 138 kb deletion involving exons 1a to 4 of CDKL5

Method of testing: array CGH

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10:363-369. Pubmed ID: 19471977

Publication ID: patient 2


Entry last updated on: 2018-06-05 13:45:42

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