Bellini Giulia, Bravaccio Carmela, Calamoneri Filippo, Donatella Cocuzza Maria, Fiorillo Pasquale, Gagliano Antonella, Mazzone Domenico, del Giudice Emanuele Miraglia, Scuccimarra Geoffredo, Militerni Roberto, Pascotto Antonio
Chair of Child Neuropsychiatry, Department of Pediatrics, Second University of Naples, Naples, Italy.
J Mol Neurosci. 2005;27(3):311-4. doi: 10.1385/jmn:27:3:311.
Recently, DYX1C1, a candidate gene for developmental dyslexia, encoding a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain, has been characterized through a translocation breakpoint in a Finnish family. Two putatively functional variants, -3G/A and 1249G/T, have been reported to be significantly associated with dyslexia in this population. Further studies, conducted on different ethnic groups (English and Canadian), have not confirmed a role for DYX1C1 variants in increasing the risk for dyslexia. We investigated the role of these variants in dyslexic children and adolescents from Southern Italy. No significant evidence for association between dyslexia and these DYX1C1 putative functional variants has been shown. We argue that the different DYX1C1 allele frequencies shown among Italian and Finnish subjects with dyslexia could be attributable to the different linkage disequilibrium structure of these populations.
最近,发育性阅读障碍的候选基因DYX1C1已通过一个芬兰家族中的易位断点得到表征,该基因编码一种在大脑中受到动态调控的含四肽重复结构域的核蛋白。据报道,该人群中两个可能具有功能的变体-3G/A和1249G/T与阅读障碍显著相关。在不同种族群体(英国和加拿大)中进行的进一步研究并未证实DYX1C1变体在增加阅读障碍风险方面的作用。我们调查了这些变体在意大利南部阅读障碍儿童和青少年中的作用。未发现阅读障碍与这些DYX1C1假定功能变体之间存在关联的显著证据。我们认为,意大利和芬兰阅读障碍受试者中显示出的不同DYX1C1等位基因频率可能归因于这些人群不同的连锁不平衡结构。