CDKL5 Proband Entry



Entry ID: cp20

Systematic name: c.2635_2636delCT

Protein name: p.Leu879Glufs*30

Alternate name(s): p.L879fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early seizure

Other mutation:

X-inactivation results: Yes - 67:33

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs61753251

Source: Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni I., Giachino, D., Bruttini, M., Hayek, G., Zapella, M., Renieri, A. (2005) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42:103-107. Pubmed ID: 15689447

Publication ID: 2

Comments:

Entry last updated on: 2014-03-13 06:02:43

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp75
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp76
c.2635_2636delCT p.Leu879Glufs*30 Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp408
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp459
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp460

Displaying a total number of 5 proband entries.