Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.
Med Oral Patol Oral Cir Bucal
; 20(6): e763-70, 2015 Nov 01.
Article
en En
| MEDLINE
| ID: mdl-26449438
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:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Labio Leporino
/
Fisura del Paladar
/
Predisposición Genética a la Enfermedad
/
Polimorfismo de Nucleótido Simple
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Med Oral Patol Oral Cir Bucal
Asunto de la revista:
ODONTOLOGIA
Año:
2015
Tipo del documento:
Article