Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family

Show full item record



Permalink

http://hdl.handle.net/10138/203377

Citation

Einarsdottir , E , Svensson , I , Darki , F , Peyrard-Janvid , M , Lindvall , J M , Ameur , A , Jacobsson , C , Klingberg , T , Kere , J & Matsson , H 2015 , ' Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family ' , Human Genetics , vol. 134 , no. 11-12 , pp. 1239-1248 . https://doi.org/10.1007/s00439-015-1602-1

Title: Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
Author: Einarsdottir, Elisabet; Svensson, Idor; Darki, Fahimeh; Peyrard-Janvid, Myriam; Lindvall, Jessica M.; Ameur, Adam; Jacobsson, Christer; Klingberg, Torkel; Kere, Juha; Matsson, Hans
Contributor organization: Research Programs Unit
Juha Kere / Principal Investigator
Research Programme for Molecular Neurology
Date: 2015-11
Language: eng
Number of pages: 10
Belongs to series: Human Genetics
ISSN: 0340-6717
DOI: https://doi.org/10.1007/s00439-015-1602-1
URI: http://hdl.handle.net/10138/203377
Abstract: 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.
Subject: READING-DISABILITY
PROTEIN
CENTROSOME
GENES
DCDC2
GENETICS
COMPLEX
LINKAGE
DYX1C1
PREVALENCE
3111 Biomedicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


Files in this item

Total number of downloads: Loading...

Files Size Format View
10.1007_s00439_015_1602_1.pdf 786.1Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record