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Application of high‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

2018; Wiley; Volume: 32; Issue: 6 Linguagem: Inglês

10.1002/jcla.22428

1098-2825

Heglayne Pereira Vital da Silva, Gustavo Henrique de Medeiros Oliveira, Marcela Abbott Galvão Ururahy, João Felipe Bezerra, Karla Simone Costa de Souza, Raul Hernandes Bortolin, André Ducati Luchessi, Vivian Nogueira Silbiger, Valéria Morgiana Gualberto Duarte Moreira Lima, Gisele Correia Pacheco Leite, Maria Edinilma Felinto de Brito, Erlane Marques Ribeiro, Vera Lúcia Gil‐da‐Silva‐Lopes, Adriana Augusto de Rezende,

Congenital Ear and Nasal Anomalies

Background Although more than 14 loci may be involved in the development of nonsyndromic cleft lip and palate ( NSCLP ), the etiology has not been fully elucidated due to genetic and environmental risk factor interactions. Despite advances in identifying genes associated with the NSCLP development using traditional genetic mapping strategies of candidate genes, genome‐wide studies, and epidemiologic and linkage analysis, microarray techniques have become important complementary tools in the search for potential causative oral clefts genes in genetic studies. Microarray hybridization enables scanning of the whole genome and detecting copy number variants ( CNV s). Although common benign CNV s are often smaller, with sizes smaller than 20 kb, here we reveal small exonic CNV s based on the importance of the encompassed genes in cleft lip and palate phenotype. Methods Microarray hybridization analysis was performed in 15 individuals with NSCLP . Results We identified 11 exonic CNV s affecting at least one exon of the candidate genes. Thirteen candidate genes ( COL 11A1– 1p21; IRF 6– 1q32.3; MSX 1– 4p16.2 ; TERT –5p15.33; MIR 4457 –5p15.33; CLPTM 1L –5p15.33; ESR 1– 6q25.1; GLI 3 –7p13; FGFR – 8p11.23; TBX 1– 22q11.21 ; OFD – Xp22; PHF 8– Xp11.22; and FLNA – Xq28) overlapped with the CNV s identified. Conclusions Considering the importance to NSCLP , the microdeletions that encompass MSX 1, microduplications over TERT , MIR 4457, CLPTM 1L, and microduplication of PHF 8 have been identified as small CNV s related to sequence variants associated with oral clefts susceptibility. Our findings represent a preliminary study on the clinical significance of small CNV s and their relationship with genes implicated in NSCLP .