Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.
J Ophthalmol
; 2022: 9991910, 2022.
Article
em En
| MEDLINE
| ID: mdl-35186329
ABSTRACT
AIM:
To identify novel mutations in keratoconus (KC) susceptibility genes in the Chinese Han population.METHODS:
A total of fifty-two patients with primary KC were recruited. Blood samples were collected, and genomic DNA was isolated from peripheral blood leukocytes. The entire coding region, intron-exon junctions, and promoter regions of sixteen known KC susceptibility genes were screened with next-generation sequencing technology. All identified variants were further confirmed using the Sanger sequencing technology. The Sorting Intolerant from Tolerant (SIFT), MutationTaster, and PolyPhen 2 programs were used to predict the effect of amino acid substitution on protein.RESULTS:
After removing twelve known SNPs (single nucleotide polymorphisms) and three variants predicted to be harmless, nine novel mutations were identified in eight of the fifty-two patients, including c.455C > Tp.P152L in FNDC3B; c.3636_3637delp.R1212fs in COL4A4; c.5015G > Tp.R1672L, c.3798dupAp.P1267fs, and c.28G > Ap.A10T in MPDZ; c.1940C > Tp.P647L in DOCK9; c.127_128insGGCp.Q43delinsRQ in POLG; c.3019G > Ap.V1007I in IPO5; and c.624 + 7- > A in TGFBI. All nine mutations in the patients with KC were heterozygote.CONCLUSION:
This study enlarged the gene profile of KC and should be further confirmed by well-powered, genome-wide association studies (GWAS) of Han Chinese patients.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article