CDKL5 Proband Entry

Entry ID: cp19

Systematic name: c.163_166delGAAA

Protein name: p.Glu55Argfs*20

Alternate name(s): p.E55fs

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early seizure

Other mutation:

X-inactivation results: Yes - 52:48

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: rs267608433

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: 1


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.163_166delGAAA p.Glu55Argfs*20 Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp200

Displaying a total number of 1 proband entries.