Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation

被引:59
作者
Bates, T. C. [1 ,2 ]
Lind, P. A. [2 ]
Luciano, M. [1 ,2 ,3 ]
Montgomery, G. W. [2 ]
Martin, N. G. [2 ]
Wright, M. J. [2 ]
机构
[1] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland
[2] Queensland Inst Med Res, Genet Epidemiol Lab, Brisbane, Qld 4006, Australia
[3] Univ Edinburgh, Ctr Cognit Aging & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland
基金
澳大利亚研究理事会; 英国医学研究理事会;
关键词
dyslexia; DYX1C1; association; reading ability; spelling ability; family-based; FAMILY-BASED ASSOCIATION; DEVELOPMENTAL DYSLEXIA; SUSCEPTIBILITY GENE; NEURONAL MIGRATION; WORD RECOGNITION; LINKAGE ANALYSIS; CHROMOSOME; 15Q; CANDIDATE GENE; DISABILITY; SUPPORT;
D O I
10.1038/mp.2009.120
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The status of DYX1C1 (C15q21.3) as a susceptibility gene for dyslexia is unclear. We report the association of this gene with reading and spelling ability in a sample of adolescent twins and their siblings. Family-based association analyses were carried out on 13 single-nucleotide polymorphisms (SNPs) in DYX1C1, typed in 790 families with up to 5 offspring and tested on 6 validated measures of lexical processing (irregular word) and grapheme-phoneme decoding (pseudo-word) reading-and spelling-based measures of dyslexia, as well as a short-term memory measure. Significant association was observed at the misssense mutation rs17819126 for all reading measures and for spelling of lexical processing words, and at rs3743204 for both irregular and nonword reading. Verbal short-term memory was associated with rs685935. Support for association was not found at rs3743205 and rs61761345 as previously reported by Taipale et al., but these SNPs had very low (0.002 for rs3743205) minor allele frequencies in this sample. These results suggest that DYX1C1 influences reading and spelling ability with additional effects on short-term information storage or rehearsal. Missense mutation rs17819126 is a potential functional basis for the association of DYX1C1 with dyslexia. Molecular Psychiatry (2010) 15, 1190-1196; doi:10.1038/mp.2009.120; published online 10 November 2009
引用
收藏
页码:1190 / 1196
页数:7
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