2015
DOI: 10.1002/mgg3.133
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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Abstract: The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in 19 patients belonging to 17 families. Seven pathogenic variants, being expansion mutations in both polyalanine tract 1… Show more

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Cited by 21 publications
(14 citation statements)
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References 54 publications
(114 reference statements)
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“…Our report underscores that a carrier female phenotype is likely to be under ascertained for ARX. This is supported by a recent examination of heterozygous females from families identified with ARX mutations [Marsh, et al, 2009] and examples of gender bias (92% male:8% female) in a recent cohort of patients referred for molecular analysis of ARX [Marques, et al, 2015]. Under ascertainment may be occurring due to several contributing factors.…”
Section: Discussionmentioning
confidence: 88%
“…Our report underscores that a carrier female phenotype is likely to be under ascertained for ARX. This is supported by a recent examination of heterozygous females from families identified with ARX mutations [Marsh, et al, 2009] and examples of gender bias (92% male:8% female) in a recent cohort of patients referred for molecular analysis of ARX [Marques, et al, 2015]. Under ascertainment may be occurring due to several contributing factors.…”
Section: Discussionmentioning
confidence: 88%
“…Of note, heterozygous female carriers can show a variety of psychiatric conditions such as anxiety, depression and schizophrenia jointly with learning disability [130]. Genomic variations in ARX have also been reported in some unaffected individuals [131]. Nevertheless, in general, different types of ARX mutations lead to severe phenotypes.…”
Section: 213a Aristaless Related Homeobox (Arx) and Interneuronopmentioning
confidence: 99%
“…[1][2][3][4] Known genetic causes of EOEE-BS include brain malformations (eg, polymicrogyria and lissencephaly), inborn errors of metabolism (eg, pyridoxine-and other vitamin-dependent epilepsies, mitochondrial disorders, and amino acidopathies), and other genetic etiologies (eg, pathogenic variants in ARX, KCNQ2, SCN2A, SIK1, SLC25A22, STXBP1). 2,[5][6][7][8][9][10][11][12][13] Based on current literature, single gene variants explain at least 20 to 30% of epileptic encephalopathies. [14][15][16] We sought to determine the contribution of genetic etiologies to EOEE-BS and to delineate genotype-phenotype correlations in a cohort of patients with EOEE-BS without malformations of cortical development.…”
mentioning
confidence: 99%