CDKL5 Proband Entry
Entry ID: cp203
Systematic name: c.404-1385_554+59del
Protein name: p.(Asp135Alafs*43)
Alternate name(s): p.D135fs (deletion of exons 7 and 8)
Mutation type: exonic deletion or duplication
Domain: serine-threonine kinase site
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: No
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 3
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.