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.
Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate / L. Scapoli, F. Carinci, A. Palmieri, F. Cura, A. Baj, G. Beltramini, R. Docimo, M. Martinelli. - In: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. - ISSN 0394-6320. - 33(2019), pp. 2058738419855873.1-2058738419855873.5.
|Titolo:||Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate|
|Parole Chiave:||cleft lip; cleft palate; monozygotic twins; Cleft Lip; Cleft Palate; DNA Copy Number Variations; Genotype; Humans; Phenotype; Polymorphism, Single Nucleotide; Twins, Dizygotic; Twins, Monozygotic|
|Settore Scientifico Disciplinare:||Settore MED/29 - Chirurgia Maxillofacciale|
|Data di pubblicazione:||2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1177/2058738419855873|
|Appare nelle tipologie:||01 - Articolo su periodico|