Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family

Manjegowda, D. S. and Prasad, M. and Veerappa, A. M. and Ramachandra, N. B. (2014) Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. Genetics Research, 96. ISSN 0016-6723

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Official URL: https://doi.org/10.1017/S0016672314000159

Abstract

Summary Van der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2·6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the IRF6 region. The duplications and deletions of the chromosomal critical region in 1q32-q41 confirm the involvement of CNVs in IRF6 in South Indian VWS patients. Molecular network analysis of these and other cleft lip/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in IRF6 in causing VWS in the Indian population.

Item Type: Article
Uncontrolled Keywords: Article, controlled study, human, unclassified drug, Humans, adult, metabolism, Chromosomes, genetics, Polymorphism, Single Nucleotide, single nucleotide polymorphism, major clinical study, adolescent, child, India, down regulation, gene expression, Indian, population genetics, signal transduction, Signal Transduction, genomic DNA, protein protein interaction, gene deletion, Multiple, chromosome aberration, protein binding, genotype, Genotype, phenotype, upregulation, Cytokines, gamma interferon, congenital malformation, gene duplication, Human, cytokine, copy number variation, gene interaction, genome, tumor protein, Abnormalities, beta4 integrin, bullous pemphigoid antigen 1, chromosome 1, chromosome 1 open reading frame 74, Chromosome Aberrations, cleft lip, Cleft Lip, cleft palate, Cleft Palate, collagen type 17 alpha 1, cyst, Cysts, desmoplakin, FAD dependent oxidoreductase domain containing 1, family history, gene dosage, Gene Dosage, haplotype map, heterogeneous nuclear ribonucleoprotein group A B, interferon regulatory factor, interferon regulatory factor 6, Interferon Regulatory Factors, intracellular signaling, IRF6 protein, ladinin 1, LIM kinase 1, lip, Lip, lipopolysaccharide binding protein, mesenchyme homeobox 1, mesenchyme homeobox 2, multiple malformation syndrome, myeloid leukemia factor 2, Pair 1, pedigree analysis, peptides and proteins, periplakin, phosphoprotein phosphatase 1, PR domain containing 16, protein metabolism, regulatory factor X3, SATB homeobox 2, t cell leukemia homeobox 2, transcription factor PAX3, transcription factor Sox10, tumor protein p63, Van der Woude syndrome
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: Arshiya Kousar
Date Deposited: 28 Jun 2019 06:02
Last Modified: 28 Jun 2019 06:02
URI: http://eprints.uni-mysore.ac.in/id/eprint/4004

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