Genotype-phenotype implications from three representative clinical FOXG1 variants associated with FOXG1 syndrome

FOXG1 (Forkhead Box G1) gene, as its name indicates, encodes a transcription factor with a Forkhead DNA-binding domain. FoxG1 protein is highly conserved among mammalian and reptilian species, with DNA-binding and C-terminal domains showing highest conservation, whereas its N-terminal domain contains a mammal-specific extended proline- and glutamine-rich region [1]. The neurodevelopmental disorder associated with heterozygous variants in FOXG1 gene is referred as FOXG1 syndrome (OMIM #613454), equivalent to the original designation of “congenital variant of Rett syndrome.” [2] The main clinical features of FOXG1 syndrome include, but are not limited to, impairment of postnatal growth, primary or secondary microcephaly, severe intellectual disability with absent speech development, epilepsy, stereotypies, and dyskinesia [3].

Source: Seizure: European Journal of Epilepsy - May 3, 2021 Category: Neurology Authors: Yan Bai, Aiwen Yi, Jing Xin, Jiaxin Xu, Mingwei Huang Tags: Clinical letter Source Type: research