title: Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.
abstract: 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.
authors.affiliation: Genomics Laboratory, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Avinash M
authors.initials: AM
authors.lastname: Veerappa
authors.forename: Marita
authors.initials: M
authors.lastname: Saldanha
authors.forename: Prakash
authors.initials: P
authors.lastname: Padakannaya
authors.forename: Nallur B
authors.initials: NB
authors.lastname: Ramachandra
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D004410:Dyslexia / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008957:Models, Genetic; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000091363:Protocadherins; D015203:Reproducibility of Results; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D015820:Cadherins; C404498:PCDH11X protein, human; D000091363:Protocadherins
keywords: CNVs; PCDH11X; developmental dyslexia; protocadherins; synaptic plasticity