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J Hum Genet. 2014 Apr;59(4):189-97. doi: 10.1038/jhg.2013.141. Epub 2014 Jan 16.

KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia.

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Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Molecular Biology Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
Centro Regionale di Riferimento per i Disturbi dell'Apprendimento-CRRDA, ULSS 20, Verona, Italy.
1] Centre de recherche de l'Institut universitaire en santé mentale de Québec, Québec, QC, Canada [2] Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, QC, Canada.


Substantial heritability has been reported for developmental dyslexia (DD), and KIAA0319 and ROBO1 appear as more than plausible candidate susceptibility genes for this developmental disorder. Converging evidence indicates that developmental difficulties in oral language and mathematics can predate or co-occur with DD, and substantial genetic correlations have been found between these abilities and reading traits. In this study, we explored the role of eight single-nucleotide polymorphisms spanning within KIAA0319 and ROBO1 genes, and DD as a dichotomic trait, related neuropsychological phenotypes and comorbid language and mathematical (dis)abilities in a large cohort of 493 Italian nuclear families ascertained through a proband with a diagnosis of DD. Marker-trait association was analyzed by implementing a general test of family-based association for quantitative traits (that is, the Quantitative Transmission Disequilibrium Test, version 2.5.1). By providing evidence for significant association with mathematics skills, our data add further result in support of ROBO1 contributing to the deficits in DD and its correlated phenotypes. Taken together, our findings shed further light into the etiologic basis and the phenotypic complexity of this developmental disorder.

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