FOXG1 Proband Entry
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: 2018-06-26 10:38:56
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.