Genome‐wide copy number scan identifies disruption of PCDH11X in developmental dyslexia. Issue 8 (20th September 2013)

• Record Type: Journal Article
• Authors: Veerappa, Avinash M.; Saldanha, Marita; Padakannaya, Prakash; Ramachandra, Nallur B.
• Is Part Of: American journal of medical genetics. Volume 162:Issue 8(2013)
• Page Start: 889
• Page End: 897
• Publication Date: 2013-09-20
• Subjects: Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32199
• Languages: English
• ISSNs: 1552-4841

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgb32199-sec-0001" sec-type="section"> <p>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 <italic>PCDH11X</italic>. Unequal recombination between the X‐transposed region (XTR) of Yp11.2 and the X chromosome might be causing these structural changes. <italic>PCDH11X</italic>, 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.</p> </sec> </abstract>