ArticleNeurogenetics2006
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Article in Neurogenetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 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
- Cellular Functional Analyses ofHuman mutation · 2026Article
- Article
- Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.Annals of medicine and surgery (2012) · 2023Article
- Article
- Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.BMC research notes · 2021Article
- 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
- Basal ganglia involvement inNeuroImage. Clinical · 2018Article
- Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Molecular genetics & genomic medicine · 2015Article
- Genetics, molecular biology, and phenotypes of x-linked epilepsy.Molecular neurobiology · 2014Review
- The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.Orphanet journal of rare diseases · 2014Article
- Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.Journal of genetics · 2011Article
- Drosophila PQBP1 regulates learning acquisition at projection neurons in aversive olfactory conditioning.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Identification of Arx transcriptional targets in the developing basal forebrain.Human molecular genetics · 2008Article
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.BMC medical genetics · 2007Article
- Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
- Mutation screening of the ARX gene in patients with autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2007Article
- Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.American journal of human genetics · 2007Article
- Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.Journal of human genetics · 2006Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24 bp, was found in families with a variety of phenotypes, but not in the more severe XLAG phenotypes. The aim of the study was to access the frequency of ARX mutations in families with established or putative X-linked mental retardation (XLMR) collected by the European XLMR Consortium. We screened the entire coding region of ARX for mutations in 197 novel XLMR families by denaturing high-performance liquid chromatography, and we identified eight mutations (six c.428_451dup24, one insertion and one novel missense mutation p.P38S). To better define the prevalence of ARX mutations, we included previously reported results of 157 XLMR families. Together, these data showed the relatively high rate (9.5%) of ARX mutations in X-linked MR families and an expectedly low rate in families with affected brother pairs (2.2%). This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.