FOXG1 Proband Entry



Entry ID: fp6

Systematic name: c.460dupG

Protein name: p.Glu154Glyfs*301

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5 negative

Source of DNA: blood

Familial testing: de novo

Control screening:

dbSNP ID:

Source: Bahi-Buisson, N., Nectoux, J., Girard, B., Van Esch, H., De Ravel, T., Boddaret, N., Plouin, P., Rio, M., Fichou, Y., Chelly, J., Bienvenu, T. (2010) Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 11:241-249. Pubmed ID: 19806373

Publication ID: Case 2

Comments:

Entry last updated on: 2015-12-02 01:17:53

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp19
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp21
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp25
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp37
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp38
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp50
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Male 24836831 Seltzer, L.E. et al (2014) fp51
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp55
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp56

Displaying a total number of 9 proband entries.