Competing interests statement: The authors declare no competing financial interests.
Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia
Article first published online: 20 SEP 2013
© 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 8, pages 889–897, December 2013
How to Cite
2013. Genome-Wide Copy Number Scan Identifies Disruption of PCDH11X in Developmental Dyslexia. Am J Med Genet Part B. 9999:889–897., , , .
- Issue published online: 4 NOV 2013
- Article first published online: 20 SEP 2013
- Manuscript Accepted: 13 AUG 2013
- Manuscript Received: 30 APR 2013
- Department of Science and Technology-Health Science. Grant Number: SR/SO/HS-103/2007
- developmental dyslexia;
- synaptic plasticity
Developmental dyslexia (DD) is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. We performed a whole genome copy number variations (CNV) scan on 11 dyslexic families consisting of 14 dyslexic subjects and 24 non dyslexic members using 1.8 million combined SNP and CNV markers. We found CNVs affecting protocadherin genes in six dyslexics from three families, while none among the non-dyslexic control members showed any CNV in protocadherins. We identified duplications in five cases and a deletion in one case in Xq21.3 region bearing PCDH11X. Unequal recombination between the X-transposed region (XTR) of Yp11.2 and the X chromosome might be causing these structural changes. PCDH11X, expressed in brain is implicated in cell–cell communication, verbal ability, cerebral asymmetry, and dendritic synaptic plasticity, may be regarded as a new candidate gene for dyslexia. © 2013 Wiley Periodicals, Inc.