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

Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate. Int J Immunopathol Pharmacol. 2019 Jan-Dec;33:2058738419855873 Authors: Scapoli L, Carinci F, Palmieri A, Cura F, Baj A, Beltramini G, Docimo R, Martinelli M 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. PMID: 31663445 [PubMed - in process]
Source: International Journal of Immunopathology and Pharmacology - Category: Allergy & Immunology Tags: Int J Immunopathol Pharmacol Source Type: research