La Dislexia del Desarrollo: Gen, Cerebro y Cognición

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Abstract

La dislexia del desarrollo es un trastorno que se caracteriza por dificultades en el aprendizaje de la lectura. Recientemente se ha podido vincular la dislexia a cuatro distintos genes candidatos de riesgo: DYX1C1, KIAA0319, DCDC2 y ROBO1. Estos cuatro genes participan en el desarrollo cerebral, y anomalías de dicho desarrollo constituyen los elementos conocidos del cuadro biológico que subyace a la dislexia. En animales experimentales, la inducción de anomalías del desarrollo cerebral similares produce problemas en el procesamiento de ciertos sonidos. En humanos, problemas de procesamiento de sonidos semejantes se asocian a un trastorno de aprendizaje de la lectura. Por consiguiente, es posible por primera vez, trazar una trayectoria tentativa entre una característica genética, variaciones del desarrollo del cerebro, y trastornos conductuales y cognitivos asociados a la dislexia.

Translated abstract

Developmental dyslexia is a disorder characterized by difficulties in reading acquisition. Recently, dyslexia has been related to four different genes which are prone-risk candidates: DYX1C1, KIAA0319, DCDC2, and ROBO1. These four genes participate in brain development, and anomalies in that development comprise the known elements of the biological constellation underlying dyslexia. The induction of similar brain development anomalies in experimental animals produces problems in the processing of certain sounds. In humans, similar sound processing problems are related to a reading acquisition disorder. Consequently, for the first time it is possible to delineate a tentative path between a genetic characteristic, brain development variations, and behavioral and cognitive disorders related to dyslexia.

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Most cited references 49

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DCDC2 is associated with reading disability and modulates neuronal development in the brain.

Haiying Meng, Shelley Smith, Karl Hager … (2005)

DYX2 on 6p22 is the most replicated reading disability (RD) locus. By saturating a previously identified peak of association with single nucleotide polymorphism markers, we identified a large polymorphic deletion that encodes tandem repeats of putative brain-related transcription factor binding sites in intron 2 of DCDC2. Alleles of this compound repeat are in significant disequilibrium with multiple reading traits. RT-PCR data show that DCDC2 localizes to the regions of the brain where fluent reading occurs, and RNA interference studies show that down-regulation alters neuronal migration. The statistical and functional studies are complementary and are consistent with the latest clinical imaging data for RD. Thus, we propose that DCDC2 is a candidate gene for RD.

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Sex differences in developmental reading disability: new findings from 4 epidemiological studies.

Sarah Moffitt, Barbara Maughan, Michael Rutter … (2004)

An influential article published in 1990 claimed that the increased rate of reading disability in boys was a consequence of referral bias. To summarize the history of research on sex differences in reading disability and to provide new evidence from 4 independent epidemiological studies about the nature, extent, and significance of sex differences in reading disability. The Dunedin Multidisciplinary Health and Development Study comprised 989 individuals (52.1% male) in a cohort born between April 1972 and March 1973 in Dunedin, New Zealand, and followed up from age 3 years; reading performance and IQ were assessed at ages 7, 9, and 11 years using the Burt Word Reading Test and the Wechsler Intelligence Scale for Children-Revised (WISC-R), respectively. The Christchurch Health and Development Study comprised 895 individuals (50% male) in a prospectively studied cohort born in the Christchurch, New Zealand, region during a 4-month period in 1977; reading performance and IQ were assessed at ages 8 to 10 years using the Burt Word Reading Test and the WISC-R. The Office for National Statistics (ONS) Study comprised a UK nationally representative sample of 5752 children (50.1% male) aged 9 to 15 years in 1999; reading was assessed on the British Ability Scales II and IQ on the British Picture Vocabulary Scales II. The Environmental Risk Longitudinal Twin Study (E-Risk) comprised 2163 twin children from England and Wales (49.1% male) identified at birth in 1994 and 1995 and included administration of the Test of Word Reading Efficiency at age 7 years and the Wechsler Preschool and Primary Scale of Intelligence-Revised as a test of IQ at age 5 years. Reading performance by sex in the lowest 15% of the distribution for all 4 studies, with and without taking IQ into account. In all 4 studies, the rates of reading disability were significantly higher in boys. For non-IQ-referenced reading disability: Dunedin study, 21.6% in boys vs 7.9% in girls (odds ratio [OR], 3.19; 95% confidence interval [CI], 2.15-4.17); Christchurch study, 20.6% in boys vs 9.8% in girls (OR, 2.38; 95% CI, 1.62-3.50); ONS study, 17.6% in boys vs 13.0% in girls (OR, 1.43; 95% CI, 1.23-1.65); and E-Risk, 18.0% in boys vs 13.0% in girls (OR, 1.39; 95% CI, 1.04-1.86). The rates for IQ-referenced reading disabilities were similar. Reading disabilities are clearly more frequent in boys than in girls.

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A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain.

K. Müller, Jaana Nopola-Hemmi, Juha Kere … (2003)

Approximately 3-10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the DYX1 locus in chromosome 15q21, that is disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia. Two sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G --> A) and a codon (1249G --> T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia. DYX1C1 encodes a 420-aa protein with three tetratricopeptide repeat (TPR) domains, thought to be protein interaction modules, but otherwise with no homology to known proteins. The mouse Dyx1c1 protein is 78% identical to the human protein, and the nonhuman primates differ at 0.5-1.4% of residues. DYX1C1 is expressed in several tissues, including the brain, and the protein resides in the nucleus. In human brain, DYX1C1 protein localizes to a fraction of cortical neurons and white matter glial cells. We conclude that DYX1C1 should be regarded as a candidate gene for developmental dyslexia. Detailed study of its function may open a path to understanding a complex process of development and maturation of the human brain.

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Author and article information

Contributors

Alberto M Galaburda: Role: ND

Joseph Lo Turco: Role: ND

Franck Ramus: Role: ND

R. Holly Fitch: Role: ND

Glenn D. Rosen: Role: ND

Emily Fisher Landau: Role: ND

Journal

Journal ID (publisher): psykhe

Title: Psykhe (Santiago)

Abbreviated Title: Psykhe

Publisher: Pontificia Universidad Católica de Chile (Santiago )

ISSN: 0718-2228

Publication date (Print): November 2006

Volume: 15

Issue: 2

Pages: 3-11

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[1 ] Harvard University USA

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Publisher ID: S0718-22282006000200001

DOI: 10.4067/S0718-22282006000200001

SO-VID: b99c999e-8658-44cb-9b4d-f23a5a6f3638

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http://creativecommons.org/licenses/by/4.0/

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SciELO Chile

Self URI (journal page): http://www.scielo.cl/scielo.php?script=sci_serial&pid=0718-2228&lng=en

La Dislexia del Desarrollo: Gen, Cerebro y Cognición Translated title: Developmental Dyslexia: Gen, Brain, and Cognition

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Most cited references 49

DCDC2 is associated with reading disability and modulates neuronal development in the brain.

Sex differences in developmental reading disability: new findings from 4 epidemiological studies.

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain.

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