Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Int J Immunopathol Pharmacol. 2019 Jan-Dec;33:2058738419855873. doi: 10.1177/2058738419855873.
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.
非综合征性唇裂伴或不伴腭裂（nsCL/P）是一种常见的口腔面裂畸形。同卵双生子和异卵双生子的一致性率比较支持高遗传率和强遗传因素。然而，同卵双生子的口腔面裂表型一致性约为 50%。本研究旨在检测可能导致同卵双生子不一致的合子后事件。使用高密度 SNP 微阵列杂交对 2 对非综合征性唇裂伴或不伴腭裂的同卵双生子进行基因分型。分析不一致的 SNP 基因型和拷贝数变异，以确定导致表型差异的遗传差异。观察到一些差异，但都不涉及已知的 nsCL/P 候选基因或基因组区域。考虑到研究的局限性，包括样本量小和大样本调查方法，结果表明，在其他同卵双生子中检测到不一致事件将是显著的，并需要进一步研究。
