CDKL5 Proband Entry



Entry ID: cp136

Systematic name: c.1196A>C

Protein name: p.Asn399Thr

Alternate name(s): p.N399T

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

Gender: Female

Phenotype: Rett syndrome - early-onset seizures

Other mutation: MECP2:c.1162C>T (p.P388S)

X-inactivation results: Yes - uninformative

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: not found in mother or unaffected brother

Familial X-inactivation:

Control screening: not found in 300/300 chromosomes

dbSNP ID: rs267608611

Source: Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A. (2009) A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. American Journal of Medical Genetics Part A 149A:722-725. Pubmed ID: 19253388

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:07:34

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