CDKL5 Proband Entry



Entry ID: cp139

Systematic name: c.-253-?_-162-27968del

Protein name: p.?

Alternate name(s): p.M1? (deletion of promoter and exon 1)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early onset seizures

Other mutation:

X-inactivation results: Yes - not reported

Chromosomal abnormality: Yes - Xp22 deletion 298 kb encompassing BEND2, SCML2 and CDKL5

Method of testing: MLPA, array CGH, MECP2, CDKL5 point mutation negative

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Bahi-Buisson, N., Girard, B., Gautier, A., Nectoux, J., Fichou, J., Saillour, Y., Poirier, K., Chelly, J., Bienvenu, T. (2010) Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. American Journal of Medical Genetics Part B 153B:202-207. Pubmed ID: 19455595

Publication ID:

Comments:

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

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