FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

• Published in: American journal of human genetics Vol. 83; no. 1; pp. 89 - 93
• Main Authors: Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.07.2008; University of Chicago Press; Cell Press; Elsevier
• Subjects: Adult; Amino Acid Sequence; Biological and medical sciences; Brain; Brain - growth & development; Brain - metabolism; Child; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Forkhead Transcription Factors - chemistry; Forkhead Transcription Factors - genetics; Fundamental and applied biological sciences. Psychology; Gene expression; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; In Situ Hybridization; Medical genetics; Medical sciences; Models, Molecular; Molecular and cellular biology; Molecular biology; Molecular Sequence Data; Mutation; Nerve Tissue Proteins - chemistry; Nerve Tissue Proteins - genetics; Neurological disorders; Neurology; Neurons; Protein Conformation; Protein Denaturation; Protein Folding; Repressor Proteins - genetics; Rett Syndrome - diagnosis; Rett Syndrome - genetics; Transcription, Genetic; Human; Variant; Nervous system diseases; Congenital; Central nervous system disease; Rett syndrome; Genetics; Degenerative disease; Genetic disease; Cerebral disorder
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1016/j.ajhg.2008.05.015

Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for early development of the telencephalon. Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.