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 spe...

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Bibliographic Details
Published in:European journal of medical genetics 2006-05, Vol.49 (3), p.269-275
Main Authors: Gestinari-Duarte, Raquel de Souza, Santos-Rebouças, Cíntia Barros, Boy, Raquel Tavares, Pimentel, Márcia Mattos Gonçalves
Format: Article
Language:English
Subjects:
Adult
Adult and adolescent clinical studies
ARX
Biological and medical sciences
Brazil
Child
Dystonia
Epilepsy
Female
Fundamental and applied biological sciences. Psychology
Gene Duplication
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Homeodomain Proteins - genetics
Humans
Intellectual deficiency
Male
Medical genetics
Medical sciences
Mental Retardation, X-Linked - genetics
Molecular and cellular biology
Pedigree
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Transcription Factors - genetics
X-linked mental retardation
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2005.08.003