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: 2018-06-05 13:45:42
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