uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden.;Karolinska Inst, Ctr Innovat Med, Huddinge, Sweden..
Linneaus Univ, Dept Psychol, Vaxjo, Sweden..
Karolinska Inst, Dept Neurosci, Solna, Sweden..
Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden.;Karolinska Inst, Ctr Innovat Med, Huddinge, Sweden..
Show others and affiliations
2015 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 134, no 11-12, 1239-1248 p.Article in journal (Refereed) Published
Abstract [en]

Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.

Place, publisher, year, edition, pages
2015. Vol. 134, no 11-12, 1239-1248 p.
National Category
Medical Genetics
URN: urn:nbn:se:uu:diva-268415DOI: 10.1007/s00439-015-1602-1ISI: 000363973000007PubMedID: 26400686OAI: oai:DiVA.org:uu-268415DiVA: diva2:877267
The Karolinska Institutet's Research FoundationMagnus Bergvall FoundationSwedish Research CouncilThe Swedish Brain FoundationKnut and Alice Wallenberg FoundationRiksbankens JubileumsfondSwedish Research CouncilScience for Life Laboratory - a national resource center for high-throughput molecular bioscience
Available from: 2015-12-06 Created: 2015-12-04 Last updated: 2016-02-29Bibliographically approved

Open Access in DiVA

fulltext(786 kB)26 downloads
File information
File name FULLTEXT01.pdfFile size 786 kBChecksum SHA-512
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Ameur, Adam
By organisation
Department of Immunology, Genetics and Pathology
In the same journal
Human Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 26 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 107 hits
ReferencesLink to record
Permanent link

Direct link