Lisik Małgorzata, Sieroń Aleksander L
Katedra i Zakład Biologii Ogólnej, Molekularnej i Genetyki, ul. Medyków 18, 40-752 Katowice.
Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44.
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).
智力迟钝是一个严重的社会问题。它影响着2%至3%的人口。据估计，每12000例存活男婴中就有1例可发现ARX基因突变。这是继脆性X综合征之后第二常见的X连锁智力迟钝病因。ARX基因属于参与中枢神经系统特定神经元细胞分化的转录因子。ARX基因最常见的突变是c. 428_451dup24，即该基因第2外显子24个碱基对的重复，导致第二个丙氨酸序列（polyA12_II）延长。由ARX基因突变引起的已描述疾病包括：伴有生殖器异常的脑积水（HYD-AG）、伴有生殖器异常的无脑回畸形（XLAG）、伴有生殖器异常的胼胝体发育不全（ACC-AG）、帕廷顿综合征（PRTS）、X连锁婴儿痉挛症（ISSX）、伴有痉挛和智力迟钝的肌阵挛性癫痫（XMESID）以及非特异性智力迟钝（NS-XLMR）。
