CDKL5 Proband Entry

Entry ID: cp229

Systematic name: c.[=/-253-?_2276+?del]

Protein name: p.[=/Met1?]

Alternate name(s): p.[=/M1?]

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - severe intellectual disability, autism, intractable seizures

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Yes - 180 kb deletion at Xp22.13; chrX[hg19]:g.18455914_18635814del; includes exons 1-15 of CDKL5

Method of testing: microarray CGH, FISH, long-range PCR

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Bartnik, M., Derwinska, K., Gos, M., Obersztyn, E., Kolodziejska, K.E., Erez, A., Szpecht-Potocka, A., Fang, P., Terczynska, I., Mierzewska, H., Lohr, N.J., Bellus, G.A., Reimschisel, T., Bocian, E., Mazurczak, T., Cheung, S.W., Stankiewicz, P. (2011) Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genetics in Medicine 13:447-452. Pubmed ID: 21293276

Publication ID: 3

Comments: mosaic (~30%) deletion 175kb affecting start of transcript

Entry last updated on: 2014-03-13 06:11:43

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