CDKL5 Proband Entry

Entry ID: cp419

Systematic name: c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342]

Protein name: p.[=/Val793Thrfs*22/Ser833Thrfs*22]

Alternate name(s): p.[=/Val793fs/Ser833fs], p.[=/V793fs/S833fs]

Mutation type: combination/multiple mutations

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - infantile spasms, CDKL5-related phenotype

Other mutation:

X-inactivation results: Yes - 60:40

Chromosomal abnormality: No

Method of testing: MLPA, QPCR, custom array CGH, sequencing negative (extent not stated)

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Boutry-Kryza, N., Ville, D., Labalme, A., Calender, A., Dupont, J.-M., Touraine, R., Edery, P., des Portes, V., Sanlaville, D., Lesca, G. (2014) Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. American Journal of Medical Genetics Part A 164A:2025-2028. Pubmed ID: 24715584

Publication ID:

Comments: female with two mosaic abnormal alleles; one deletion of exon 17 and one deletion of exon 18

Entry last updated on: 2014-11-03 23:19:19

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