CDKL5 Proband Entry

Entry ID: cp337

Systematic name: c.404-?_554+?del

Protein name: p.(Asp135Alafs*43)

Alternate name(s): p.(D135AfsX43) (deletion of exons 7 and 8)

Mutation type: exonic deletion or duplication

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - Hanefeld

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group (2012) Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 43:37-43. Pubmed ID: 22430159

Publication ID: 4


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

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