The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta.

ABSTRACT:

Objectives

This study aimed to comprehensively characterise genetic variants of amelogenesis imperfecta in a single Korean family through whole-exome sequencing and bioinformatics analysis.

Material and methods

Thirty-one individuals of a Korean family, 9 of whom were affected and 22 unaffected by amelogenesis imperfecta, were enrolled. Whole-exome sequencing was performed on 12 saliva samples, including samples from 8 affected and 4 unaffected individuals. The possible candidate genes associated with the disease were screened by segregation analysis and variant filtering. In silico mutation impact analysis was then performed on the filtered variants based on sequence conservation and protein structure.

Results

Whole-exome sequencing data revealed an X-linked dominant

SUBMITTER: Choi H 

PROVIDER: S-EPMC9203382 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature