Nota Clínica

ARX mutations and mental retardation of unknown etiology: three new cases in Spain

M.T. Romero-Rubio, M. Andrés-Celma, M.L. Castelló-Pomares, M. Roselló, I. Ferrer-Bolufer, F. Martínez-Castellano [REV NEUROL 2008;47:634-637] PMID: 19085879 DOI: https://doi.org/10.33588/rn.4712.2008397

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Volumen 47 | Number 12 | Nº of views of the article 10.729 | Nº of PDF downloads 686 | Article publication date 16/12/2008

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ABSTRACT

INTRODUCTION Mental retardation has an approximated prevalence of 2% in the general population and its most frequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristaless-related homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. CASE REPORTS. We report three cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. CONCLUSION. The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation in males of nondrafted cause. KeywordsARX gene Autism Distony Epilepsy Mental retardation X-fragile syndrome CategoriesNeuropediatría Neuropsiquiatría

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Nota Clínica

ARX mutations and mental retardation of unknown etiology: three new cases in Spain