title: Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.
abstract: OBJECTIVE
  Autism (MIM#209850) and schizophrenia (MIM#181500) are both neurodevelopmental psychiatric disorders characterized by a highly genetic component. Homeogenes and forkhead genes encode transcription factors, which have been involved in brain development and cell differentiation. Thus, they are relevant candidate genes for psychiatric disorders. Genetic studies have reported an association between autism and DLX2, HOXA1, EN2, ARX, and FOXP2 genes whereas only three studies of EN2, OTX2, and FOXP2 were performed on schizophrenia. Interestingly, most of these candidate genes contain trinucleotide repeats coding for polyamino acid stretch in which instability can be the cause of neurodevelopmental disorders. Our goal was to identify variations of coding trinucleotide repeats in schizophrenia, autism, and idiopathic mental retardation.
  
  
  METHODS
  We screened the coding trinucleotide repeats of OTX1, EN1, DLX2, HOXA1, and FOXP2 genes in populations suffering from schizophrenia (247 patients), autism (98 patients), and idiopathic mental retardation (56 patients), and compared them with control populations (112 super controls and 202 healthy controls).
  
  
  RESULTS
  Novel deletions and insertions of coding trinucleotide repeats were found in the DLX2, HOXA1, and FOXP2 genes. Most of these variations were detected in controls and no difference in their distribution was observed between patient and control groups. Two different polymorphisms in FOXP2 were, however, found only in autistic patients and the functional consequences of these variations of repeats have to be characterized and correlated to particular clinical features.
  
  
  CONCLUSIONS
  This study did not identify specific disease risk variants of trinucleotide repeats in OTX1, EN1, DLX2, HOXA1, and FOXP2 candidate genes in neurodevelopmental psychiatric disorders.
authors.affiliation: INSERM AVENIR, Institut Jacques Monod UMR7592, Paris, France.
authors.forename: Fabrice
authors.initials: F
authors.lastname: Laroche
authors.forename: Nicolas
authors.initials: N
authors.lastname: Ramoz
authors.forename: Sophie
authors.initials: S
authors.lastname: Leroy
authors.forename: Célia
authors.initials: C
authors.lastname: Fortin
authors.forename: Bérangère
authors.initials: B
authors.lastname: Rousselot-Paillet
authors.forename: Anne
authors.initials: A
authors.lastname: Philippe
authors.forename: Laurence
authors.initials: L
authors.lastname: Colleaux
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Bresson
authors.forename: Agnès
authors.initials: A
authors.lastname: Mogenet
authors.forename: Bernard
authors.initials: B
authors.lastname: Golse
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Mouren-Simeoni
authors.forename: Philip
authors.initials: P
authors.lastname: Gorwood
authors.forename: Thierry
authors.initials: T
authors.lastname: Galli
authors.forename: Michel
authors.initials: M
authors.lastname: Simonneau
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Krebs
authors.forename: Laurence
authors.initials: L
authors.lastname: Robel
mesh_terms: D005260:Female; D005801:Genes, Homeobox; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic; D018911:Trinucleotide Repeats