Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia

Veerappa, A. M. and Saldanha, M. and Padakannaya, P. and Ramachandra, N. B. (2013) Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 162 (8). pp. 889-897. ISSN 1552-4841

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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.

Item Type: Article
Uncontrolled Keywords: 3' Untranslated Regions, 5' Untranslated Regions, adolescent, Adolescent, Aged, article, brain asymmetry, Cadherins, cell communication, Chromosome Breakage, Chromosome Deletion, Chromosome Duplication, clinical article, CNVs, controlled study, copy number variation, dendritic spine, developmental disorder, developmental dyslexia, DNA Copy Number Variations, dyslexia, Dyslexia, exon, familial disease, Family, Female, gene, gene deletion, gene disruption, gene duplication, Genetic, genetic association, Genetic Predisposition to Disease, genetic recombination, Genome, genotype, human, Human, Humans, India, language ability, learning, male, Male, memory, Models, Mutation, nerve cell plasticity, PCDH11X, PCDH11X gene, Pedigree, phoneme, priority journal, protocadherins, reading, Reproducibility of Results, spelling, synaptic plasticity, X chromosome, Young Adult
Subjects: A Arts and Humanities > Psychology
B Life Science > Zoology
Divisions: Department of > Psychology
Department of > Zoology
Depositing User: Arshiya Kousar Library Assistant
Date Deposited: 11 Dec 2019 09:43
Last Modified: 11 Dec 2019 09:43

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