CDKL5 Proband Entry



Entry ID: cp358

Systematic name: c.1008_1029del22

Protein name: p.Ser337Argfs*6

Alternate name(s): p.S337RfsX6

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: HRM, DHPLC, MECP2 negative

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:15:03

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