Revista de neurologia · 2008
[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Romero-Rubio M T, Andrés-Celma M, Castelló-Pomares M L, Roselló M, Ferrer-Bolufer I, Martínez-Castellano F
Аннотация
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.
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.