FOXG1 Proband Entry



Entry ID: fp17

Systematic name: c.757A>G

Protein name: p.Asn253Asp

Alternate name(s):

Mutation type: missense

Domain: Forkhead binding domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: NK

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative

Source of DNA: blood

Familial testing: de novo

Control screening:

dbSNP ID:

Source: Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L.E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W.B. (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48:396-406. Pubmed ID: 21441262

Publication ID: 5

Comments:

Entry last updated on: 2015-12-02 01:18:46

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.757A>G p.Asn253Asp Not known Female Directly submitted fp86

Displaying a total number of 1 proband entries.