Research progress on the genetics of developmental dyslexia susceptibility gene KIAA0319 and DCDC2

ZHAO Hua; LIU Rui-fang; SHI Hong-juan; ZUO Peng-xiang

doi:10.11852/zgetbjzz2019-0437

PDF(494 KB)

Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (3) : 284-287. DOI: 10.11852/zgetbjzz2019-0437

Research progress on the genetics of developmental dyslexia susceptibility gene KIAA0319 and DCDC2

ZHAO Hua¹, LIU Rui-fang¹, SHI Hong-juan¹, ZUO Peng-xiang²

Author information +

History +

Abstract

Developmental dyslexia (DD) in children is a polygenic genetic disease with complex etiologies,controlled by multiple genes interacting with each other.In recent years,multiple susceptible genes have been gradually identified since the researches on genetic behavior of dyslexia.This paper mainly focuses on chromosome 6 to review the common candidate genes for dyslexia,including DCDC2,KIAA0319 and their interactions,so as to provide reference for exploring the mechanism of dyslexia from the perspective of "gene-brain-behavior".

Key words

developmental dyslexia / DCDC2 / KIAA0319 / interaction

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

ZHAO Hua, LIU Rui-fang, SHI Hong-juan, ZUO Peng-xiang. Research progress on the genetics of developmental dyslexia susceptibility gene KIAA0319 and DCDC2[J]. Chinese Journal of Child Health Care. 2020, 28(3): 284-287 https://doi.org/10.11852/zgetbjzz2019-0437

References

[1] Cope N,Harold D,Hill G,et al.Strong evidence that KIAA0319,on chromosome 6p is a susceptibility gene for developmental dyslexia[J].Am J Hum Genet,2005,76(4):581-591.
[2] 任海燕,陈蕴,赵华,等.DCDC2与KIAA0319基因间交互作用与维吾尔族儿童发展性阅读障碍的关联性研究[J].中国心理卫生杂志,2018,32(11):88-94.
[3] Lind PA,Luciano M,Wright MJ,et al.Dyslexia and DCDC2:normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample[J].Eur J Human Genet,2010,18(6):668-673.
[4] Scerri TS,Morris AP,Buckingham LL,et al.DCDC2,KIAA0319 and CMIP are associated with reading-related traits[J].Biol Psychiatry,2011,70(3):237-245.
[5] Zhong R,Yang B,Tang H,et al.Meta-analysis of the association between DCDC2 polymorphisms and risk of dyslexia[J].Mol Neurobiol,2013,47(1):435-442.
[6] Deffenbacher KE,Kenyon JB,Hoover DM,et al.Refinement of the 6p21.3 quantitative trait locus influencing dyslexia:linkage and association analyses[J].Hum Genet,2004,115(2):128-138.
[7] Meng H,Smith SD,Hager K,et al.From the cover:DCDC2 is associated with reading disability and modulates neuronal development in the brain[J].Proc Natl Acad Sci USA,2005,102(47):17053-17058.
[8] Marino C,Meng H,Mascheretti S,et al.DCDC2 genetic variants and susceptibility to developmental dyslexia[J].Psychiatr Genet,2012,22(1):25-30.
[9] Powers N,Eicher J,Butter F,et al.Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment[J].Am J Hum Genet,2013,93(1):19-28.
[10] Venkatesh SK,Siddaiah A,Padakannaya P,et al.Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population[J].J Hum Genet,2013,58(8):531-538.
[11] Svidnicki MC,Salgado CA,Lima RF,et al.Study of candidate genes for dyslexia in Brazilian individuals[J].Genet Mol Res,2013,12(4):5356-5364.
[12] 左彭湘,谷强,李增春,等.汉族儿童发展性阅读障碍DCDC2基因遗传多态性研究[J].中国妇幼保健,2013,28(30):5025-5028.
[13] Sun Y,Gao Y,Zhou Y,et al.Association study of developmental dyslexia candidate genes DCDC2 and KIAA0319 in Chinese population[J].Am J Med Genet B:Neuropsychiatric Genet,2014,165(8):627-634.
[14] Zhang Y,Li J,Song S,et al.Association of DCDC2 polymorphisms with normal variations in reading abilities in a Chinese population[J].PLoS One,2016,11(4):e0153603.
[15] Waye MMY,Poo LK,Ho CS.Study of genetic association with DCDC2 and developmental dyslexia in Hong Kong Chinese children[J].Clin Pract Epidemiol Ment Health,2017,13(1):104-114.
[16] Chen Y,Zhao H,Zhang YX,et al.DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children[J].Neural Regen Res,2017,12(2):259-266.
[17] Satu M,Marie-Estelle H,Hans M,et al.Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons[J].PLoS One,2011,6(6):e20580.
[18] Marino C,Scifo P,Della Rosa PA,et al.The DCDC2/intron 2 deletion and white matter disorganization:focus on developmental dyslexia[J].Cortex,2014,57:227-243.
[19] Centanni TM,Booker AB,Chen F,et al.Knockdown of dyslexia-gene Dcdc2 interferes with speech sound discrimination in continuous streams[J].J Neurosci,2016,36(17):4895-4906.
[20] Trulioff A,Ermakov A,Malashichev Y.Primary cilia as a possible link between left-right asymmetry and neurodevelopmental diseases[J].Genes (Basel),2017,8(2):48.doi:10.3390/genes8020048.
[21] Tammimies K,Bieder A,Lauter G,et al.Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X(RFX) transcription factors through X-box promoter motifs[J].FASEB J,2016,30(10):3578-3587.
[22] Zou L,Chen W,Shao S,et al.Genetic variant in KIAA 0319,but not in DYX1C1,is associated with risk of dyslexia:An integrated meta-analysis[J].Am J Med Genet B Neuropsychiatr Genet,2012,159B(8):970-976.
[23] Shao S,Kong R,Zou L,et al.The roles of genes in the neuronal migration and neurite outgrowth network in developmental dyslexia:single-and multiple-risk genetic variants[J].Mol Neurobiol,2016,53(6):3967-3975.
[24] Zhao H,Chen Y,Zhang BP,et al.KIAA0319 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children[J].J Hum Genet,2016,61(8):745-752.
[25] Shao S,Niu Y,Zhang X,et al.Opposite associations between Individual KIAA0319 polymorphisms and developmental dyslexia risk across populations:a stratified meta-Analysis by the study population[J].Sci Rep,2016,6:30454.
[26] Velayos-Baeza A,Levecque C,Kobayashi K,et al.The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage[J].J Biol Chem,2010,285(51):40148-40162.
[27] Centanni TM,Fuyi C,Booker AM,et al.Speech dound processing deficits and training-induced neural plasticity in rats with dyslexia gene knockdown[J].PLoS One,2014,9(5):e98439.
[28] Szalkowski CE,Fiondella CF,Truong DT,et al.The effects of KIAA0319 knockdown on cortical and subcortical anatomy in male rats[J].Int J Dev Neurosci,2013,31(2):116-122.
[29] Marsh APL,Lukic V,Pope K,et al.Complete callosal agenesis,pontocerebellar hypoplasia,and axonal neuropathy due to AMPD2 loss[J].Neurol Genet,2015,1(2):e16.
[30] Franquinho F,Nogueira-Rodrigues J,Duarte JM,et al.The dyslexia-susceptibility protein KIAA0319 inhibits axon growth through smad2 signaling[J].Cereb Cortex,2017,27(3):1732-1747.
[31] Schmitz J,Kumsta R,Moser D,et al.KIAA0319,promoter DNA methylation predicts dichotic listening performance in forced-attention conditions[J].Behav Brain Res,2018,337:1-7.
[32] Harold D,Paracchini S,Scerri T,et al.Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia[J].Mol Psychiatr,2006,11(12):1085-1091.
[33] Ludwig KU,Roeske D,Schumacher J,et al.Investigation of interaction between DCDC2andKIAA0319in a large German dyslexia sample[J].J Neural Transm (Vienna),2008,115(11):1587-1589.
[34] Zhao H,Zhang B,Chen Y,et al.Environmental risk factors in Han and Uyghur Children with dyslexia:A comparative study[J].PLoS One,2016,11(7):e0159042.