ClinGen Dosage Sensitivity Curation Page

FOXG1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000014.8) (NC_000014.9)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18571142 Ariani et al. (2008) identified 2 different de novo heterozygous truncating mutations in FOXG1 in 2 unrelated girls: the first mutation is a 765G-A transition resulting in a trp255-to-ter substitution, and the second mutation is a 1 basepair deletion (969delC). Both girls had the congenital variant of Rett syndrome (infantile onset on microcephaly, intellectual disabilities, and stereotypic movements similar to that observed in classic Rett syndrome).
19578037 Mencarelli et al. (2010) identified 2 different de novo heterozygous truncating mutations in the FOXG1 gene in 2 unrelated girls with the congenital variant of Rett syndrome. The first mutation is a 624C-G transversion, resulting in a tyr208-to-ter substitution. The second mutation is a 1 basepair insertion (552insC). Both girls had severe intellectual disability with lack of speech and motor development and stereotypic movements.

Haploinsufficiency phenotype comments:

Heterozygous loss of FOXG1 results in the congenital variant of Rett syndrome (see OMIM).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity