Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

ABSTRACT: Multiple previous reports confirm that several missense alleles of MSX1 exhibit Mendelian inheritance of an oligodontia phenotype (agenesis of more than six secondary teeth besides third molars). However, the extent to which missense MSX1 alleles contribute to common, multifactorial disorders is less certain. It is still not yet clear whether multiple non-synonomous MSX1-coding variants identified among patients with oral clefting are merely neutral polymorphisms or whether any of these might represent real mutations with mild effects. The present work steps toward resolving these issues for at least one MSX1 allele: R151S, previously identified in a single Japanese proband with unilateral cleft lip and palate. Candidate gene sequencing within a patient cohort demonstrating mild tooth agen

SUBMITTER: Kamamoto M 

PROVIDER: S-EPMC3172929 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature