CDKL5 Proband Entry
Entry ID: cp201
Systematic name: c.-162-?_*1085del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 2 to 21)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - uninformative
Chromosomal abnormality: Yes - 455 kb deletion at Xp22.2 (hg18 chrX:18372524-18828772) including CDKL5 (except exon 1), RS1, PPEF1
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 1
Comments:
Entry last updated on: 2018-06-05 13:45:42
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