Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.
Heglayne Pereira Vital da SilvaGustavo Henrique de Medeiros OliveiraMarcela Abbott Galvão UrurahyJoão Felipe BezerraKarla Simone Costa de SouzaRaul Hernandes BortolinAndré Ducati LuchessiVivian Nogueira SilbigerValéria Morgiana Gualberto Duarte Moreira LimaGisele Correia Pacheco LeiteMaria Edinilma Felinto BritoErlane Marques RibeiroVera Lúcia Gil-da-Silva-LopesAdriana Augusto de RezendePublished in: Journal of clinical laboratory analysis (2018)
Considering the importance to NSCLP, the microdeletions that encompass MSX1, microduplications over TERT, MIR4457, CLPTM1L, and microduplication of PHF8 have been identified as small CNVs related to sequence variants associated with oral clefts susceptibility. Our findings represent a preliminary study on the clinical significance of small CNVs and their relationship with genes implicated in NSCLP.