Evidence map›Paper›PMID 16254601›Full record

ArticlePLoS genetics2005

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.

Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, Juha Kere

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02622360 (Speech and Short-term Memory Functions in Dyslexia), which is not on this map. Cited by 157 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
157citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 2% 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.

NCT02622360 unknown statusnot on this mapstarted 2015, after this paper: background citation

Speech and Short-term Memory Functions in Dyslexia: a Combined MEG and EEG Study

TypeobservationalSponsorUniversity of HelsinkiRan2015 to 2021Enrolled50ConditionsDyslexia
3 · Its place in the literature

Who cites it

157 citing papers in PubMed, 1 synthesis or guideline pooled it, 332 citations in OpenAlex.

  1. Pooled it
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  8. Longitudinal trajectories of brain development from infancy to school age and their relationship with literacy development.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  16. Cell-autonomous action ofFrontiers in molecular neuroscience · 2024
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97 more citing papers are in PubMed but not listed here.

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 3 countries.

Katariina Hannula-JouppiDepartment of Medical Genetics, University of Helsinki, Finland.
Nina Kaminen-Ahola
Mikko Taipale
Ranja Eklund
Jaana Nopola-Hemmi
Helena Kääriäinen
Juha Kere
University of Helsinki · FIJorvi Hospital · FIKarolinska Institutet · SEUniversity of Turku · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome 3, DYX5, has been linked to dyslexia in one large family and speech-sound disorder in a subset of small families. We found that the axon guidance receptor gene ROBO1, orthologous to the Drosophila roundabout gene, is disrupted by a chromosome translocation in a dyslexic individual. In a large pedigree with 21 dyslexic individuals genetically linked to a specific haplotype of ROBO1 (not found in any other chromosomes in our samples), the expression of ROBO1 from this haplotype was absent or attenuated in affected individuals. Sequencing of ROBO1 in apes revealed multiple coding differences, and the selection pressure was significantly different between the human, chimpanzee, and gorilla branch as compared to orangutan. We also identified novel exons and splice variants of ROBO1 that may explain the apparent phenotypic differences between human and mouse in heterozygous loss of ROBO1. We conclude that dyslexia may be caused by partial haplo-insufficiency for ROBO1 in rare families. Thus, our data suggest that a slight disturbance in neuronal axon crossing across the midline between brain hemispheres, dendrite guidance, or another function of ROBO1 may manifest as a specific reading disability in humans.

Indexed as

Genetic Predisposition to DiseaseAlternative SplicingAnimalsChromosome MappingDyslexiaExonsFamily HealthHumansMolecular Sequence DataNerve Tissue ProteinsNeuronsPedigreePhylogenyPolymorphism, GeneticReceptors, ImmunologicRoundabout ProteinsNerve Tissue ProteinsReceptors, ImmunologicRoundabout Proteins

Identifiers

PMID16254601
PMCPMC1270007
OpenAlexW2164012319

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.