Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing
Med. oral patol. oral cir. bucal (Internet)
; 20(6): e763-e770, nov. 2015. tab, ilus
Artigo
em Inglês
| IBECS
| ID: ibc-144711
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
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 ANDMETHODS:
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
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Fenda Labial
/
Fissura Palatina
/
Predisposição Genética para Doença
/
Exoma
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Aspecto:
Aspectos éticos
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Med. oral patol. oral cir. bucal (Internet)
Ano de publicação:
2015
Tipo de documento:
Artigo
Instituição/País de afiliação:
Maternal and Child Health Hospital of Xuzhou City/China
/
Xuzhou Medical College School of Public Health/China