2010
DOI: 10.1007/s10519-010-9408-3
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Abstract: Reading disability (RD) or dyslexia is a common neurogenetic disorder. Two genes, KIAA0319 and DCDC2, have been identified by association studies of the DYX2 locus on 6p21.3. We previously identified a 2445 bp deletion, and a compound STR within the deleted region (BV677278), in intron 2 of DCDC2. The deletion and several alleles of the STR are strongly associated with RD (P = 0.00002). In this study we investigated whether BV677278 is a regulatory region for DCDC2 by electrophoretic mobility shift and lucifer… Show more

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Cited by 53 publications
(50 citation statements)
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“…Previously identified functional variants have been replicated, including BV677278 of DCDC2 [Brkanac et al, 2007;Ludwig et al, 2008b;Wilcke et al, 2009;Meng et al, 2011;Marino et al, 2012;Powers et al, 2013] and rs9461045 of KIAA0319 [Elbert et al, 2011;Kirsten et al, 2012;Svidnicki et al, 2013;Venkatesh et al, 2013]. The results were inconclusive across different populations.…”
Section: Discussionmentioning
confidence: 98%
See 1 more Smart Citation
“…Previously identified functional variants have been replicated, including BV677278 of DCDC2 [Brkanac et al, 2007;Ludwig et al, 2008b;Wilcke et al, 2009;Meng et al, 2011;Marino et al, 2012;Powers et al, 2013] and rs9461045 of KIAA0319 [Elbert et al, 2011;Kirsten et al, 2012;Svidnicki et al, 2013;Venkatesh et al, 2013]. The results were inconclusive across different populations.…”
Section: Discussionmentioning
confidence: 98%
“…The study identified a 2445-bp deletion including a short tandem repeat (STR, BV677278) in the intron 2 of DCDC2 [Meng et al, 2005]. Functional studies found that BV677278 could modulate DCDC2 expression [Meng et al, 2011]. Recently, the transcription factor ETV6 was identified as BV677278-binding protein [Powers et al, 2013].…”
Section: Introduction Neuropsychiatric Geneticsmentioning
confidence: 99%
“…It has been suggested that BV677278 has an effect on gene expression regulation (Meng et al, 2005; Meng et al, 2011). Although it is tempting to hypothesize that the associations we found are based on functional mechanisms, BV677278 associated alleles could rather be in linkage disequilibrium with other causative variants.…”
Section: Discussionmentioning
confidence: 99%
“…In conclusion, despite early findings that DCDC2 is a strong candidate for developmental dyslexia and that some of the genetic variants have been linked to brain structure and functions in several populations [23, 28, 29, 50-54], our findings show that DCDC2 is not strongly associated with dyslexia in Hong Kong Chinese, consistent with the reports from some other groups [16, 55] and other meta-analyses studies [56]. In contrast to the meta-analyses carried out by Zhong’s group, our findings also do not support their conclusion that rs807701 is associated with developmental dyslexia [57].…”
Section: Resultsmentioning
confidence: 91%