Mutations in the human TWIST gene.
Publication/Presentation Date
1-1-2000
Abstract
Saethre-Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domains. Numerous missense and nonsense mutations cluster in the functional domains, without any apparent mutational hot spot. Two novel point mutations and one novel polymorphism are included in this review. Large deletions including the TWIST gene have been identified in some patients with learning disabilities or mental retardation, which are not typically part of the Saethre-Chotzen syndrome. Comprehensive studies in patients with the clinical diagnosis of Saethre-Chotzen syndrome have demonstrated a TWIST gene abnormality in about 80%, up to 37% of which may be large deletions [Johnson et al., 1998]. The gene deletions and numerous nonsense mutations are suggestive of haploinsufficiency as the disease-causing mechanism. No genotype phenotype correlation was apparent.
Volume
15
Issue
2
First Page
150
Last Page
155
ISSN
1059-7794
Published In/Presented At
Gripp, K. W., Zackai, E. H., & Stolle, C. A. (2000). Mutations in the human TWIST gene. Human mutation, 15(2), 150–155. https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
10649491
Department(s)
Department of Pediatrics
Document Type
Article