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  • Title: Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate.
    Author: Scapoli L, Carinci F, Palmieri A, Cura F, Baj A, Beltramini G, Docimo R, Martinelli M.
    Journal: Int J Immunopathol Pharmacol; 2019; 33():2058738419855873. PubMed ID: 31663445.
    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.
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