Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44.

[ARX--one gene--many phenotypes].

[Article in Polish]

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Katedra i Zakład Biologii Ogólnej, Molekularnej i Genetyki, ul. Medyków 18, 40-752 Katowice. mlisik@sum.edu.pl

Abstract

Mental retardation is a serious social problem. It affects 2-3% of the population. It is estimated that mutations in the ARX gene can be found in 1 in 12,000 live male births. This is the second most common cause of X-linked mental retardation after fragile X syndrome. The ARX gene belongs to transcription factors involved in differentiation of specific neuronal cells in the central nervous system. The most common mutation in the ARX gene is c. 428_451dup24, duplication of 24 bp in exon 2 of the gene, causing elongation of the second alanine tract (polyA12_II). Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).

PMID:: 18975239; [PubMed - indexed for MEDLINE]

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. [Hum Mutat. 2004]
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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[ARX--one gene--many phenotypes].
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Neurol Neurochir Pol. 2008 Jul-Aug ;42(4):338-44.

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