Evidence for Major Gene Transmission of Developmental Dyslexia

Pennington, Bruce F.; Gilger, Jeffrey W.; Pauls, David L.; Smith, Sarah M.; Smith, Shelley D.; DeFries, John C.

doi:10.1001/jama.1991.03470110073036

Cited by 188 publications

(71 citation statements)

References 20 publications

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“…Genetic factors behind dyslexia have been demonstrated: in studies inspired by the early observation of dyslexia running in families, a number of susceptibility genes for dyslexia have been found operating via neuronal migration and axonal guidance during the prenatal period Pennington, Gilger, Pauls, Smith, Smith, & DeFries 1991;Scerri & Schulte-Körne, 2010;. However the phenotypic appearance of dyslexia results from a very complicated combination of genes and environmental factors.…”

Section: Background and Causal Factors Of Dyslexiamentioning

confidence: 99%

Enhancement of brain event-related potentials to speech sounds is associated with compensated reading skills in dyslexic children with familial risk for dyslexia

Lohvansuu

Hämäläinen

Tanskanen

et al. 2014

International Journal of Psychophysiology

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Section: Background and Causal Factors Of Dyslexiamentioning

confidence: 99%

Enhancement of brain event-related potentials to speech sounds is associated with compensated reading skills in dyslexic children with familial risk for dyslexia

Lohvansuu

Hämäläinen

Tanskanen

et al. 2014

International Journal of Psychophysiology

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“…There is strong evidence (affected parent) for a genetic contribution to the disorder. According to twin studies, only certain reading related skills (phonological aspects of reading accuracy) are inherited and the heritability of the disorder is approximately 0.71 (Pennington et al 1991;Schulte-Korne 1996;DeFries et al 1987). When children of consanguineous marriages were examined for their reading disabilities, the rate of reading disabilities is higher in children of firstcousin parents than that of second-cousin or unrelated parents.…”

Section: Geneticsmentioning

confidence: 99%

Developmental dyslexia: an update

Shastry

2006

J Hum Genet

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Dyslexia is the most common and carefully studied of the learning disabilities in school-age children. It is characterized by a marked impairment in the development of reading skills, and affects a large number of people (5-10%). Reading difficulties may also arise from poor vision, emotional problems, decreased hearing ability, and behavioral disorders, such as attention-deficit hyperactivity (ADHD). Although many areas of the brain are involved in reading, analysis of postmortem brain specimens by a variety of imaging techniques most consistently suggests that deficiency within a specific component of the language system-the phonologic module-in the temporo-parietal-occipital brain region underlies dyslexia. It is a highly familial and heritable disorder with susceptibility loci on chromosomes 1, 2, 3, 6, 11, 13, 15 and 18. Recently, four candidate genes (KIAA 0319, DYX1C1, DCDC2 and ROBO1) are shown to be associated with dyslexia. Although some of these results are controversial because of the genetic heterogeneity of the disorder, the available evidence suggests that dyslexia could be due to the abnormal migration and maturation of neurons during early development. Interestingly, in spite of genetic heterogeneity, the pathology appears to involve common phonological coding deficits. The condition can be managed by a highly structured educational training exercise.

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“…Although the pathophysiology of DD is unknown, there is strong evidence that genes make a substantial contribution to individual variation in risk of DD, with twin studies reporting heritability estimates of up to 0.71. [1][2][3][4][5][6][7][8] Linkage studies have identified several genomic regions that may harbor susceptibility quantitative trait loci (QTL) for DD, and the most consistently replicated of these is DYX2, which lies on chromosome 6p22.2. 1,[9][10][11][12][13][14][15][16] A number of association studies have now been performed attempting to identify the DYX2 susceptibility locus.…”

Section: Introductionmentioning

confidence: 99%

Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia

et al. 2006

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The DYX2 locus on chromosome 6p22.2 is the most replicated region of linkage to developmental dyslexia (DD). Two candidate genes within this region have recently been implicated in the disorder: KIAA0319 and DCDC2. Variants within DCDC2 have shown association with DD in a US and a German sample. However, when we genotyped these specific variants in two large, independent UK samples, we obtained only weak, inconsistent evidence for their involvement in DD. Having previously found evidence that variation in the KIAA0319 gene confers susceptibility to DD, we sought to refine this genetic association by genotyping 36 additional SNPs in the gene. Nine SNPs, predominantly clustered around the first exon, showed the most significant association with DD in one or both UK samples, including rs3212236 in the 5 0 flanking region (P = 0.00003) and rs761100 in intron 1 (P = 0.0004). We have thus refined the region of association with developmental dyslexia to putative regulatory sequences around the first exon of the KIAA0319 gene, supporting the presence of functional mutations that could affect gene expression. Our data also suggests a possible interaction between KIAA0319 and DCDC2, which requires further testing.

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Evidence for Major Gene Transmission of Developmental Dyslexia

Cited by 188 publications

References 20 publications

Enhancement of brain event-related potentials to speech sounds is associated with compensated reading skills in dyslexic children with familial risk for dyslexia

Enhancement of brain event-related potentials to speech sounds is associated with compensated reading skills in dyslexic children with familial risk for dyslexia

Developmental dyslexia: an update

Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia

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