FOXG1 Mutations



This list is periodically updated from the primary MECP2 database, whilst a separate FOXG1 database is being set up and tested. To get the latest FOXG1 mutations or to alter the fields you'd like to have displayed, please search the MECP2 database with the term "FOXG1".


Short Citation Nucleotide change Amino acid change Type of sequence change Mutation/polymorphism Phenotype Sex Carrier status of family
Directly submitted FOXG1: c.[563C>G(;)644_645delTCinsCT] FOXG1: p.[A188G(;)F215S] missense, in-frame combined insertion and deletion Mutation associated with disease Not known F mother and father tested normal
Seltzer et al 24836831 FOXG1: c.133_469del337insACCCACCGCCCC FoxG1: p.Pro45Thrfs*39 frameshift combined insertion and deletion Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
De Filippis et al 22091895 FOXG1: c.136C>T FoxG1: p.Q46X nonsense Mutation associated with disease Not Rett synd. F de novo
Van der Aa et al 22190898 FOXG1: c.159_161dupCCA FOXG1: p.H57dup in-frame insertion or deletion Polymorphism not causing disease Not Rett synd. - early-onset encephalopathy F in unaffected father
Van der Aa et al 22190898 FOXG1: c.159_161dupCCA FOXG1: p.H57dup in-frame insertion or deletion Polymorphism not causing disease Not Rett synd. - unaffected family member M in daughter with encephalopathy
Seltzer et al 24836831 FOXG1: c.222_223dupGC FoxG1: p.Pro75Argfs*118 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Seltzer et al 24836831 FOXG1: c.256C>T FoxG1: p.Gln86* nonsense Mutation associated with disease Not Rett synd. - FOXG1-related disorder F  
Kortum et al 21441262 FOXG1: c.256C>T FOXG1: p.Q86X nonsense Mutation associated with disease Rett syndrome - atypical F not in mother
Allou et al 22739344 FOXG1: c.256delC FoxG1: p.Q86RfsX106 frameshift insertion or deletion Mutation associated with disease Rett syndrome - atypical M de novo
Allou et al 22739344 FOXG1: c.256dupC FoxG1: p.Q86PfsX35 frameshift insertion or deletion Mutation associated with disease Rett syndrome - classical F de novo
Ellaway et al 22968132 FOXG1: c.256dupC FoxG1: p.Q86PfsX35 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F de novo
Le Guen et al 20734096 FOXG1: c.256dupC FoxG1: p.Q86PfsX35 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital M absent in both parents
Takahashi et al 22129046 FOXG1: c.256dupC FoxG1: p.Q86PfsX35 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F de novo
Directly submitted FOXG1: c.263_278del16 FOXG1: p.R88PfsX99 frameshift insertion or deletion Mutation associated with disease Not known M No
Kortum et al 21441262 FOXG1: c.263_278del16 FoxG1: p.R88PfsX99 frameshift insertion or deletion Mutation associated with disease Rett syndrome - atypical M de novo
Le Guen et al 21270142 FOXG1: c.326C>T FOXG1: p.P109L missense Polymorphism not causing disease Not Rett synd. - severe microcephaly F heterozygous in healthy father
Le Guen et al 21270142 FOXG1: c.326C>T FOXG1: p.P109L missense Polymorphism not causing disease Not Rett synd. - unaffected family member M  
Seltzer et al 24836831 FOXG1: c.430G>T FoxG1: p.Glu144* nonsense Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Bahi-Buisson et al 19806373 FOXG1: c.460dupG FOXG1: p.E154GfsX301 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F de novo
Kortum et al 21441262 FOXG1: c.460dupG FOXG1: p.E154GfsX301 frameshift insertion or deletion Mutation associated with disease Rett syndrome - atypical M No
Kortum et al 21441262 FOXG1: c.460dupG FOXG1: p.E154GfsX301 frameshift insertion or deletion Mutation associated with disease Rett syndrome - atypical F de novo
Van der Aa et al 22190898 FOXG1: c.460dupG FoxG1: p.E154GfsX301 frameshift insertion or deletion Mutation associated with disease Rett syndrome - classical F de novo
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder M also present in affected sister
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder F  
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder F also present in affected brother
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder F also present in identical twin
Seltzer et al 24836831 FOXG1: c.460dupG FoxG1: p.Glu154Glyfs*301 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder F also present in identical twin
Direct submission FOXG1: c.505_506delGGinsT FoxG1: p.G169SfsX23 frameshift combined insertion and deletion Mutation associated with disease Not known M No
Kortum et al 21441262 FOXG1: c.505_506delGGinsT FoxG1: p.G169SfsX23 frameshift combined insertion and deletion Mutation associated with disease Rett syndrome - atypical M de novo
Seltzer et al 24836831 FOXG1: c.506delG FoxG1: p.Gly169Alafs*23 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
De Bruyn et al 24388699 FOXG1:c.506dup FoxG1:p.Lys170Glnfs*285 frameshift insertion or deletion Mutation associated with disease Not Rett synd. - FOXG1 syndrome M healthy parents did not carry FOXG1 mutation
Seltzer et al 24836831 FOXG1: c.515_577del63 FoxG1: p.Gly172_Met192del in-frame insertion or deletion Mutation associated with disease Not Rett synd. - FOXG1-related disorder F also present in affected sister
Seltzer et al 24836831 FOXG1: c.515_577del63 FoxG1: p.Gly172_Met192del in-frame insertion or deletion Mutation associated with disease Not Rett synd. - FOXG1-related disorder F also present in affected sister
Mencarelli et al 19578037 FOXG1: c.552dupC FoxG1: p.S185QfsX454 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F de novo
Van der Aa et al 22190898 FOXG1: c.577G>A FoxG1: p.A193T missense Mutation associated with disease Rett syndrome - congenital M de novo
Seltzer et al 24836831 FOXG1: c.577G>A FoxG1: p.Ala193Thr missense Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Seltzer et al 24836831 FOXG1: c.586C>T FoxG1: p.Gln196* nonsense Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Meneret et al 21953941 FOXG1: c.610C>T FoxG1: p.L204F missense Mutation associated with disease Not Rett synd. F not found in mother but father not available for testing
Mencarelli et al 19578037 FOXG1: c.624C>G FOXG1: p.Y208X nonsense Mutation associated with disease Rett syndrome - congenital F de novo
Roche-Martinez et al 21488007 FOXG1: c.624C>G FoxG1: p.Y208X nonsense Mutation associated with disease Rett syndrome - congenital F Not checked
Mencarelli et al 19578037 FOXG1: c.643T>C FOXG1: p.F215L missense Mutation associated with disease Rett syndrome - congenital F de novo
Seltzer et al 24836831 FOXG1: c.651C>G FoxG1: p.Tyr217* nonsense Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Mencarelli et al 19578037 FOXG1: c.681C>G FOXG1: p.N227K missense Unknown Rett syndrome - congenital F No
Takahashi et al 22129046 FOXG1: c.689G>A FoxG1: p.R230H missense Mutation associated with disease Rett syndrome - congenital F de novo
Kortum et al 21441262 FOXG1: c.700T>C FOXG1: p.S234P missense Mutation associated with disease Rett syndrome - atypical M de novo
Le Guen et al 21270142 FOXG1: c.730C>T FOXG1: p.R244C missense Mutation associated with disease Rett syndrome - congenital F de novo
Seltzer et al 24836831 FOXG1: c.735delC FoxG1: p.Tyr246Thrfs*80 frameshift insertion or duplication Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Direct submission FOXG1: c.755G>T FoxG1: p.G252V missense Mutation associated with disease Not known F mother and father tested normal
Seltzer et al 24836831 FOXG1: c.755G>T FoxG1: p.Gly252Val missense Mutation associated with disease Not Rett synd. - FOXG1-related disorder F  
Direct submission FOXG1: c.757A>G FoxG1: p.N253D missense Mutation associated with disease Not known F mother and father tested normal
Kortum et al 21441262 FOXG1: c.757A>G FoxG1: p.N253D missense Mutation associated with disease Rett syndrome - atypical F de novo
Seltzer et al 24836831 FOXG1: c.762C>G FoxG1: p.Tyr254* nonsense Mutation associated with disease Not Rett synd. - FOXG1-related disorder M  
Ariani et al 18571142 FOXG1: c.765G>A FoxG1: p.W255X nonsense Mutation associated with disease Rett syndrome - congenital F No
Das et al 24412290 FOXG1:c.788_792delACGTG FOXG1:p.Asp263Valfs*190 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F not detected in parents
Philippe et al 19564653 FOXG1: c.924G>A FoxG1: p.W308X nonsense Mutation associated with disease Not Rett synd. - severe Rett-like neurodevelpmental disorder F de novo
Ariani et al 18571142 FOXG1: c.969delC FoxG1: p.S323RfsX3 frameshift insertion or deletion Mutation associated with disease Rett syndrome - congenital F No
Diebold et al 24766421 FOXG1: c.974_975insA FoxG1: p.Ser326Glufs*129 frameshift insertion of deletion Mutation associated with disease Not Rett synd. - not specified M absent in father, mosaic in mother (35.6% leukocytes, 9.7% in fibroblasts)
De Filippis et al 22091895 FOXG1: c.1200C>A FoxG1: p.Y400X nonsense Mutation associated with disease Not Rett synd. F de novo
Philippe et al 19564653 FOXG1: c.1200C>G FoxG1: p.Y400X nonsense Mutation associated with disease Rett syndrome - classical F de novo
Bahi-Buisson et al 19806373 FOXG1: c.1248C>G FoxG1: p.Y416X nonsense Mutation associated with disease Rett syndrome - congenital F de novo

There are 61 results. This list is last updated on 9th March, 2015. Please go to the primary MECP2 database for the latest updates.