title: ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
abstract: The recently identified gene ARX (Aristalles-Related Homeobox) codifies the ARX protein, an important transcript factor that belongs to one of the three largest classes of homeoproteins, the paired (Prd) class. Several mutations have been identified in ARX gene, which is responsible for a wide spectrum of phenotypes, including syndromic as well as non syndromic forms of mental retardation. One of the mutations, the c.428-451 dup (24 bp) is the most frequent identified in the ARX gene. This duplication leads to an expansion of the second polyalanine tract of ARX protein. We have reported the identification of a Brazilian family segregating the c.428-451 dup (24 bp) in ARX gene.
authors.affiliation: Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rua São Francisco Xavier 524, PHLC sala 218, Maracanã, Rio de Janeiro 20550-013, Brazil. raquelgestinari@yahoo.com.br
authors.forename: Raquel de Souza
authors.initials: Rde S
authors.lastname: Gestinari-Duarte
authors.forename: Cíntia Barros
authors.initials: CB
authors.lastname: Santos-Rebouças
authors.forename: Raquel Tavares
authors.initials: RT
authors.lastname: Boy
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D000328:Adult; D001938:Brazil; D002648:Child; D005260:Female; D020440:Gene Duplication; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors