ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
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.
Gestinari-Duarte
Raquel de Souza
Rde S
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
Santos-Rebouças
Cíntia Barros
CB
Boy
Raquel Tavares
RT
Pimentel
Márcia Mattos Gonçalves
MM
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*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors