Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

"FOXG1 syndrome" includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements deletion, associated with down regulated mRNA, suggested an implication of FOXG1 pathway. Herein, we report on a young boy with a phenotype consistent with a FOXG1 syndrome. He had a de novo translocation t(6;14)(q22.1;q12) associated with a heterozygous 14q12.2q13 deletion encompassing FOXG1. Subsequently, we investigated his transcriptomic profile on lymphoblastoïd cell lines and/or fibroblasts and showed that FOXG1 was commonly down-regulated. Moreover, several other FOXG1 pathway genes were also disturbed. Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome" developmental disorder.