Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics

Veerappa, A. M. and Saldanha, M. and Padakannaya, P. and Ramachandra, N. B. (2014) Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 165 (7). pp. 572-580. ISSN 1552-4841

[img] Text (Full Text)
Zoo_2014_Ramachandra_03.pdf - Published Version
Restricted to Registered users only

Download (984kB) | Request a copy
Official URL:


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 genome-wide screening for copy number variations (CNVs) in 10 large Indian dyslexic families using Affymetrix Genome-Wide Human SNP Array 6.0. Results revealed the complex genomic rearrangements due to one non-contiguous deletion and five contiguous micro duplications and micro deletions at 17q21.31 region in three dyslexic families. CNVs in this region harbor the genes KIAA1267, LRRC37A, ARL17A/B, NSFP1, and NSF. The CNVs in case 1 and case 2 at this locus were found to be in homozygous state and case 3 was a de novo CNV. These CNVs were found with at least one CNV having a common break and end points in the parents. This cluster of genes containing NSF is implicated in learning, cognition, and memory, though not formally associated with dyslexia. Molecular network analysis of these and other dyslexia related module genes suggests NSF and other genes to be associated with cellular/vesicular membrane fusion and synaptic transmission. Thus, we suggest that NSF in this cluster would be the nearest gene responsible for the learning disability phenotype.

Item Type: Article
Uncontrolled Keywords: Article, controlled study, human, Humans, adult, male, Male, female, Female, Chromosomes, genetics, adolescent, Adolescent, Adult, child, Child, comparative study, young adult, Young Adult, Indian, Genome, case report, school child, follow up, homozygosity, Follow-Up Studies, prognosis, Prognosis, phenotype, Phenotype, Case-Control Studies, heterozygosity, case control study, Human, ARL17A gene, ARL17B gene, chromosome 17, chromosome 17q, comparative genomic hybridization, Comparative Genomic Hybridization, copy number variation, DNA Copy Number Variations, dyslexia, Dyslexia, family, Family, gene rearrangement, Gene Rearrangement, genetic predisposition, Genetic Predisposition to Disease, human genome, KIAA1267 gene, LRR37A gene, LRR37A2 gene, NSF gene, NSFP1 gene, Pair 17
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: 03 Sep 2019 06:08
Last Modified: 03 Sep 2019 06:08

Actions (login required)

View Item View Item