Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

ABSTRACT: Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. In the current report, the clinical findings in a consanguineous Turkish family were characterized. Three affected siblings had the characteristic features of Setleis syndrome. Homozygosity for the first TWIST2 missense mutation, c.326T>C (p.Leu109Pro), was identified in the patients. In silico analyses predicted that the secondary structure of the mutant protein was sustained, but the empirical force field

SUBMITTER: Rosti RO 

PROVIDER: S-EPMC4769376 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature