CDKL5 Proband Entry



Entry ID: cp204

Systematic name: c.-253-?_825+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1 to 10)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - uninformative

Chromosomal abnormality: Yes - 180 kb deletion at Xp22.3 (including exons 1-10 of CDKL)

Method of testing: MLPA, CDKL5 point mutation negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Publication ID: Patient 4

Comments:

Entry last updated on: 2014-03-13 06:10:47

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