title: Screening of the ARX gene in 682 retarded males.
abstract: The newly identified gene, ARX, when mutated has been shown to cause both syndromic and nonsyndromic forms of mental retardation. It seems that the less severe forms are due to polyalanine expansions and missense mutations in the gene. We screened 682 developmentally retarded males for polyalanine expansions in ARX in order to examine the contribution of ARX mutations to the causes of developmental retardation. We also reinvestigated 11 putative MRX and three MR families where no cause of mental retardation had been found, by mutational analysis of ARX. Mutational analysis was also performed in 11 probands with autism from families with two or more affected males. We find that previously described polyalanine expansions of ARX are not a common cause of mental retardation.
authors.affiliation: Medical Genetics Laboratory, John F Kennedy Institute, Glostrup DK-2600, Denmark. kag@kennedy.dk
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
authors.forename: Inge-Merete
authors.initials: IM
authors.lastname: Nielsen
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010455:Peptides / Q000235:genetics; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D017931:DNA Primers; D018398:Homeodomain Proteins; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine