阅读障碍的遗传学：从表型到候选基因。
The genetics of reading disabilities: from phenotypes to candidate genes.
机构信息
Department of Medicine, University of Washington Seattle, WA, USA ; Department of Psychiatry and Behavioral Sciences, University of Washington Seattle, WA, USA.
出版信息
Front Psychol. 2013 Jan 7;3:601. doi: 10.3389/fpsyg.2012.00601. eCollection 2012.
Abstract
This article provides an overview of (a) issues in definition and diagnosis of specific reading disabilities at the behavioral level that may occur in different constellations of developmental and phenotypic profiles (patterns); (b) rapidly expanding research on genetic heterogeneity and gene candidates for dyslexia and other reading disabilities; (c) emerging research on gene-brain relationships; and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behavioral expression of genetic variations. A glossary of genetic terms (denoted by bold font) is provided for readers not familiar with the technical terms.
摘要
本文概述了以下几个方面
(a) 在行为层面上，特定阅读障碍的定义和诊断问题，这些问题可能出现在不同的发展和表现模式组合中；(b) 阅读障碍和其他阅读障碍的遗传异质性和候选基因的研究迅速增加；(c) 关于基因-大脑关系的新兴研究；以及(d) 目前对环境事件可能改变遗传变异的行为表达的表观遗传机制的理解。对于不熟悉技术术语的读者，本文提供了一个遗传术语词汇表（用粗体表示）。
相似文献
1
The genetics of reading disabilities: from phenotypes to candidate genes.
Front Psychol. 2013 Jan 7;3:601. doi: 10.3389/fpsyg.2012.00601. eCollection 2012.
2
Developmental dyslexia: an update on genes, brains, and environments.
J Child Psychol Psychiatry. 2001 Jan;42(1):91-125.
3
Knockdown of Dyslexia-Gene Dcdc2 Interferes with Speech Sound Discrimination in Continuous Streams.
J Neurosci. 2016 Apr 27;36(17):4895-906. doi: 10.1523/JNEUROSCI.4202-15.2016.
4
Developmental dyslexia: an update.
J Hum Genet. 2007;52(2):104-109. doi: 10.1007/s10038-006-0088-z. Epub 2006 Nov 17.
5
Cognitive and familial risk evidence converged: A data-driven identification of distinct and homogeneous subtypes within the heterogeneous sample of reading disabled children.
Res Dev Disabil. 2016 Jun-Jul;53-54:213-31. doi: 10.1016/j.ridd.2015.12.018. Epub 2016 Feb 27.
6
The Association of Dyslexia and Developmental Speech and Language Disorder Candidate Genes with Reading and Language Abilities in Adults.
Twin Res Hum Genet. 2020 Feb;23(1):23-32. doi: 10.1017/thg.2020.7. Epub 2020 Apr 6.
7
Different behavioral and eye movement patterns of dyslexic readers with and without attentional deficits during single word reading.
Neuropsychologia. 2009 Oct;47(12):2436-45. doi: 10.1016/j.neuropsychologia.2009.04.006. Epub 2009 Apr 19.
8
Inter-relationships among behavioral markers, genes, brain and treatment in dyslexia and dysgraphia.
Future Neurol. 2010 Jul 1;5(4):597-617. doi: 10.2217/fnl.10.22.
9
Same or Different: The Overlap Between Children With Auditory Processing Disorders and Children With Other Developmental Disorders: A Systematic Review.
Ear Hear. 2018 Jan/Feb;39(1):1-19. doi: 10.1097/AUD.0000000000000479.
10
Paying attention to reading: the neurobiology of reading and dyslexia.
Dev Psychopathol. 2008 Fall;20(4):1329-49. doi: 10.1017/S0954579408000631.
引用本文的文献
1
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts.
PLoS One. 2025 May 27;20(5):e0324006. doi: 10.1371/journal.pone.0324006. eCollection 2025.
2
Exploring Genetic and Neural Risk of Specific Reading Disability within a Nuclear Twin Family Case Study: A Translational Clinical Application.
J Pers Med. 2023 Jan 14;13(1):156. doi: 10.3390/jpm13010156.
3
Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.
Transl Psychiatry. 2022 Nov 29;12(1):495. doi: 10.1038/s41398-022-02250-z.
4
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.
HGG Adv. 2022 May 20;3(3):100119. doi: 10.1016/j.xhgg.2022.100119. eCollection 2022 Jul 14.
5
Rapid auditory processing and medial geniculate nucleus anomalies in Kiaa0319 knockout mice.
Genes Brain Behav. 2022 Jul;21(6):e12808. doi: 10.1111/gbb.12808. Epub 2022 Apr 13.
6
Insights into Dyslexia Genetics Research from the Last Two Decades.
Brain Sci. 2021 Dec 26;12(1):27. doi: 10.3390/brainsci12010027.
7
Developmental Dyslexia: Environment Matters.
Brain Sci. 2021 Jun 13;11(6):782. doi: 10.3390/brainsci11060782.
8
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.
Mol Psychiatry. 2021 Jul;26(7):3004-3017. doi: 10.1038/s41380-020-00898-x. Epub 2020 Oct 14.
9
From BDNF to reading: Neural activation and phonological processing as multiple mediators.
Behav Brain Res. 2021 Jan 1;396:112859. doi: 10.1016/j.bbr.2020.112859. Epub 2020 Aug 15.
10
Two Autism/Dyslexia Linked Variations of Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development.
Front Cell Neurosci. 2020 Jan 15;13:577. doi: 10.3389/fncel.2019.00577. eCollection 2019.
本文引用的文献
1
Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech.
Clin Linguist Phon. 2013 Mar;27(3):163-91. doi: 10.3109/02699206.2012.736011. Epub 2013 Jan 22.
2
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins.
Biol Psychiatry. 2013 Mar 15;73(6):583-90. doi: 10.1016/j.biopsych.2012.08.012. Epub 2012 Oct 1.
3
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3.
4
An integrated encyclopedia of DNA elements in the human genome.
Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247.
5
Grey matter alterations co-localize with functional abnormalities in developmental dyslexia: an ALE meta-analysis.
PLoS One. 2012;7(8):e43122. doi: 10.1371/journal.pone.0043122. Epub 2012 Aug 20.
6
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5.
7
Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.
Biol Psychiatry. 2012 Oct 15;72(8):671-6. doi: 10.1016/j.biopsych.2012.05.008. Epub 2012 Jun 9.
8
Validity of DSM-IV attention deficit/hyperactivity disorder symptom dimensions and subtypes.
J Abnorm Psychol. 2012 Nov;121(4):991-1010. doi: 10.1037/a0027347. Epub 2012 May 21.
9
The genetic variability and commonality of neurodevelopmental disease.
Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):118-29. doi: 10.1002/ajmg.c.31327. Epub 2012 Apr 12.
10
The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language.
Behav Genet. 2012 Jul;42(4):509-27. doi: 10.1007/s10519-012-9532-3. Epub 2012 Mar 17.
Zotero 插件