ArticleBMC medical genetics2007
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?European journal of human genetics : EJHG · 2012Pooled it
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- Mutations of ARX and non-syndromic intellectual disability in Chinese population.Genes & genomics · 2019Article
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.American journal of medical genetics. Part A · 2018Article
- NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Scientific reports · 2015Article
- Development and validation of a multiplex-PCR assay for X-linked intellectual disability.BMC medical genetics · 2013Article
- A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.American journal of human genetics · 2013Article
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- Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Frontiers in cellular neuroscience · 2010Article
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Authors and funding
12 authors at 5 institutions in 1 country.
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Abstract
backgroundCognitive impairments are heterogeneous conditions, and it is estimated that 10% may be caused by a defect of mental function genes on the X chromosome. One of those genes is Aristaless related homeobox (ARX) encoding a polyA-rich homeobox transcription factor essential for cerebral patterning and its mutations cause different neurologic disorders. We reported on the clinical and genetic analysis of an Italian family with X-linked mental retardation (XLMR) and intra-familial heterogeneity, and provided insight into its molecular defect.
methodsWe carried out on linkage-candidate gene studies in a new MRX family (MRX87). All coding regions and exon-intron boundaries of ARX gene were analysed by direct sequencing.
resultsMRX87 patients had moderate to profound cognition impairment and a combination of minor congenital anomalies. The disease locus, MRX87, was mapped between DXS7104 and DXS1214, placing it in Xp22-p21 interval, a hot spot region for mental handicap. An in frame duplication of 24 bp (ARXdup24) in the second polyAlanine tract (polyA_II) in ARX was identified.
conclusionOur study underlines the role of ARXdup24 as a critical mutational site causing mental retardation linked to Xp22. Phenotypic heterogeneity of MRX87 patients represents a new observation relevant to the functional consequences of polyAlanine expansions enriching the puzzling complexity of ARXdup24-linked diseases.
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