Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

ABSTRACT:

Background

MSX1 (OMIM #142983) is crucial to normal dental development, and variants in MSX1 are associated with dental anomalies. The objective of this study was to characterize the pathogenicity of novel MSX1 variants in Chinese families with non-syndromic oligodontia (NSO).

Methods

Genomic DNA was extracted from individuals representing 35 families with non-syndromic oligodontia and was analyzed by Sanger sequencing and whole-exome sequencing. Pathogenic variants were screened via analyses involving PolyPhen-2, Sorting-Intolerant from Tolerant, and MutationTaster, and conservative analysis of variants. Patterns of MSX1-related NSO were analyzed. MSX1 structural changes suggested functional consequences in vitro.

Results

Three previously unreported MSX1 heterozygous

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC10767605 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature