Article
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
European journal of human genetics : EJHG - 1 Dec 2012
Allou Lila, Lambert Laetitia, Amsallem Daniel, Bieth Eric, Edery Patrick, Destrée Anne, Rivier François, Amor David, Thompson Elizabeth, Nicholl Julian, Harbord Michael, Nemos Christophe, Saunier Aline, Moustaïne Aissa, Vigouroux Adeline, Jonveaux Philippe, Philippe Christophe
Abstract excerpt
The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor critical for forebrain development. Recently, the core FOXG1 syndrome was defined as postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients with a...
Topics
- Agenesis of Corpus Callosum
- Cell Line
- Child
- Child, Preschool
- Chromosomes, Human, Pair 14
- DNA Copy Number Variations
- Dyskinesias
- Female
- Forkhead Transcription Factors