Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate. (October 2019)

• Record Type: Journal Article
• Authors: Scapoli, Luca; Carinci, Francesco; Palmieri, Annalisa; Cura, Francesca; Baj, Alessandro; Beltramini, Giada; Docimo, Raffaella; Martinelli, Marcella
• Is Part Of: International journal of immunopathology and pharmacology. Volume 33(2019)
• Publication Date: 2019-10
• Subjects: cleft lip -- cleft palate -- monozygotic twins; Immunopathology -- Periodicals; Pharmacology -- Periodicals; Inflammation -- Periodicals; 615.1
• DOI: 10.1177/2058738419855873
• Languages: English
• ISSNs: 0394-6320

Abstract

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However, phenotype concordance for orofacial cleft in monozygotic twins is about 50%. The aim of the present investigation was to detect postzygotic events that may account for discordance in monozygotic twins. High-density SNP microarrays hybridization was used to genotype two pairs of monozygotic twins discordant for nsCL/P. Discordant SNP genotypes and copy number variants were analyzed to identify genetic differences responsible of phenotype discrepancy. A number of differences were observed, none involving known nsCL/P candidate genes or genomic regions. Considering the limitation of the study, related to the small sample size and to the large-scale investigation method, the results suggest that the detection of discordant events in other monozygotic twin pairs would be remarkable and warrant further investigations.