Evidence map›Paper›PMID 15342694›Full record

ArticleJournal of medical genetics2004

Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.

C G F de Kovel, F A Hol, J G A M Heister, J J H T Willemen, L A Sandkuijl, B Franke, G W Padberg

Open access · bronzeAbstract read
In one paragraph

Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
4.3field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 74 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Brain and behavior · 2017
    Article
  5. Article
  6. A case of Bilateral Perisylvian Syndrome with reading disability.Cortex; a journal devoted to the study of the nervous system and behavior · 2016
    Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2010
    Article
  15. Genetics of developmental dyslexia.European child & adolescent psychiatry · 2010
    Review
  16. The genetics of reading disability.Current psychiatry reports · 2009
    Review
  17. Article
  18. Genetics of dyslexia: the evolving landscape.Journal of medical genetics · 2007
    Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 1 country.

C G F de KovelDepartment of Theoretical Biology, University of Leiden, NL-2311 GP Leiden, The Netherlands. dekovel@rulsfb.leidenuniv.ne
F A Hol
J G A M Heister
J J H T Willemen
L A Sandkuijl
B Franke
G W Padberg
Radboud University Nijmegen · NLRadboud University Medical Center · NLLeiden University · NLLeiden University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

contextDyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown.

objectiveTo identify loci contributing to dyslexia risk.

methodsThis was a genomewide linkage analysis in a single large family. Dutch families with at least two first degree relatives suffering from dyslexia participated in the study. Participants were recruited through an advertisement campaign in papers and magazines. The main outcome measure was linkage between genetic markers and dyslexia phenotype.

resultsUsing parametric linkage analysis, we found strong evidence for a locus influencing dyslexia on Xq27.3 (multipoint lod = 3.68). Recombinations in two family members flanked an 8 cM region, comprising 11 currently confirmed genes. All four males carrying the risk haplotype had very low scores on the reading tests. The presentation in females was more variable, but 8/9 females carrying the risk haplotype were diagnosed dyslexic by our composite score, so we considered the putative risk allele to be dominant with reduced penetrance. Linkage was not found in an additional collection of affected sibling pairs.

conclusionsA locus influencing dyslexia risk is probably located between markers DXS1227 and DXS8091 on the X chromosome, closely situated to a locus indicated by a published genome scan of English sibling pairs. Although the locus may not be a common cause for dyslexia, the relatively small and gene poor region offers hope to identify the responsible gene.

Indexed as

AdolescentAdultAgedAllelesChromosomes, Human, XDNA Mutational AnalysisDyslexiaFemaleGenes, DominantGenetic Diseases, X-LinkedGenetic Predisposition to DiseaseGenome, HumanHumansLod ScoreMaleMiddle Aged

Identifiers

PMID15342694
PMCPMC1735895
OpenAlexW1832574037

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.