X-linked mental retardation (XLMR)
Evidence-based neurology checklist on x-linked mental retardation (xlmr): Genetics This is caused by mutations in the ARX gene There is usually a duplication in exon 2 It causes a polyalanine repeat expansion It may also arise from truncating mutations Clinical features Other ARX gene mutation…
Genetics
- This is caused by mutations in the ARX gene
- There is usually a duplication in exon 2
- It causes a polyalanine repeat expansion
- It may also arise from truncating mutations
Clinical features
Other ARX gene mutation manifestations
Differential diagnosis: other causes of X linked mental retardation
References
- Troester MM, Trachtenberg T, Narayanan V. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. J Child Neurol 2007; 22:744-748.
- Hirose S, Mitsudome A. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Brain Dev 2003; 25:161-165.
- Marques I, Sá MJ, Soares G, et al. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Mol Genet Genomic Med 2015; 3:203-214.
- Mattiske T, Moey C, Vissers LE, et al. An emerging female phenotype with loss-of-function mutations in the aristaless-related homeodomain transcription factor ARX. Hum Mutat 2017; 38:548-555.
- Breen DP, Mercimek-Andrews S, Lang AE. Infantile-onset hand dystonia with intellectual disability: clues to ARX mutations. Neurology 2018; 90:333-335.
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