Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing
| Autor: | Mei-Rong Zhang, Li-Chun Xu, Xiu Peng, Ji-Long Zhou, Hong-Min Yu, Jin-Peng Zhang, Chen Pan, Qin-Rong Wu, Xiao-Long Zhou, Yi-Qun Li, Qi Wang, Yu-Juan Xia, Ya-Peng Liu, Li-Fang Xu |
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| Rok vydání: | 2015 |
| Předmět: |
Nonsynonymous substitution
Candidate gene dbSNP Cleft Lip Odontología Biology Polymorphism Single Nucleotide symbols.namesake Humans Exome Genetic Predisposition to Disease 1000 Genomes Project General Dentistry Exome sequencing Genetics Sanger sequencing Base Sequence Genetic heterogeneity Research CIENCIAS MÉDICAS [UNESCO] Ciencias de la salud Cleft Palate Otorhinolaryngology UNESCO::CIENCIAS MÉDICAS symbols Surgery Oral Surgery |
| Zdroj: | Medicina Oral, Patología Oral y Cirugía Bucal Liu, Ya-Peng ; Xu, Li-Fang ; Wang, Qi ; Zhou, Xiao-Long ; Zhou, Ji-Long ; Pan, Chen ; Zhang, Jin-Peng ; Wu, Qin-Rong ; Li, Yi-Qun ; Xia, Yu-Juan ; Peng, Xiu ; Zhang, Mei-Rong ; Yu, Hong-Min ; Xu, Li-Chun. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2015, Vol. 20, No. 6: 16 RODERIC. Repositorio Institucional de la Universitat de Valéncia instname |
| ISSN: | 1698-6946 |
| DOI: | 10.4317/medoral.20758 |
| Popis: | Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. Key words:Non-syndromic cleft lip with or without cleft palate, whole-exome sequencing, sanger sequencing, susceptibility gene, single nucleotide variants (SNVs). |
| Databáze: | OpenAIRE |
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