title: Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.
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.
authors.affiliation: Genetics Unit, Department of Anatomy,Yenepoya Medical College,Mangalore-575018,Karnataka,India.
authors.forename: Dinesh S
authors.initials: DS
authors.lastname: Manjegowda
authors.affiliation: Centre for Craniofacial Anomaly, Yenepoya Dental College and Hospital,Mangalore-575018,Karnataka,India.
authors.forename: Manu
authors.initials: M
authors.lastname: Prasad
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology,University of Mysore,Manasagangotri,Mysore-570006,Karnataka,India.
authors.forename: Avinash M
authors.initials: AM
authors.lastname: Veerappa
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology,University of Mysore,Manasagangotri,Mysore-570006,Karnataka,India.
authors.forename: Nallur B
authors.initials: NB
authors.lastname: Ramachandra
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D016207:Cytokines / Q000378:metabolism; D018628:Gene Dosage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D016207:Cytokines; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors