Saethre-Chotzen Syndrome: A Case Report

Peña, William A.; Slavotinek, Anne; Oberoi, Snehlata

doi:10.1597/07-202.1

Cited by 12 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Recent case studies described a similar clinical presentation of Saethre-Chotzen syndrome in patients with mutations in the TWIST1 WR domain (Seto et al 2007;Pena et al 2010). The milder phenotype seen in these patients can possibly be explained by the blunted, but not abolished, ability of TWIST WR domain mutants to bind to the double E-box motif with high affinity.…”

Section: Discussionmentioning

confidence: 82%

An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors

et al. 2015

View full text Add to dashboard Cite

Basic helix-loop-helix (bHLH) transcription factors recognize the canonical E-box (CANNTG) to regulate gene transcription; however, given the prevalence of E-boxes in a genome, it has been puzzling how individual bHLH proteins selectively recognize E-box sequences on their targets. TWIST is a bHLH transcription factor that promotes epithelial-mesenchymal transition (EMT) during development and tumor metastasis. High-resolution mapping of TWIST occupancy in human and Drosophila genomes reveals that TWIST, but not other bHLH proteins, recognizes a unique double E-box motif with two E-boxes spaced preferentially by 5 nucleotides. Using molecular modeling and binding kinetic analyses, we found that the strict spatial configuration in the double E-box motif aligns two TWIST-E47 dimers on the same face of DNA, thus providing a high-affinity site for a highly stable intramolecular tetramer. Biochemical analyses showed that the WR domain of TWIST dimerizes to mediate tetramer formation, which is functionally required for TWIST-induced EMT. These results uncover a novel mechanism for a bHLH transcription factor to recognize a unique spatial configuration of E-boxes to achieve target specificity. The WR-WR domain interaction uncovered here sets an example of target gene specificity of a bHLH protein being controlled allosterically by a domain outside of the bHLH region.

show abstract

Section: Discussionmentioning

confidence: 82%

An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Thus, in milder cases, the phenotype may not be identified. [16][17][18][19][20] The TWIST1 gene provides information in the form of a protein that plays a major role in the developmental phases of an embryo. The protein product of TWIST1 is important in embryonic development for the formation of muscle, bone, and other tissue in the craniofacial regions.…”

Section: Discussionmentioning

confidence: 99%

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

et al. 2023

View full text Add to dashboard Cite

The TWIST1 gene codes for a highly conserved transcription factor in a basic helix–loop–helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre–Chotzen syndrome, Robinow–Sorauf syndrome, and Sweeney–Cox syndrome. Major features of these syndromes include coronal synostosis, vision problems, and deafness, and facial features include hypertelorism, low-set ears, arched eyebrows, beaked nose, maxillary hypoplasia, and other dysmorphisms including broad great toes, clinodactyly, brachydactyly, and cutaneous syndactyly. TWIST1 (bHLH) transcription factor regulates the formation of head and limbs in the embryo. We describe three families affected with craniosynostosis in whom a sporadic TWIST1 variant was identified on whole exome sequencing, chromosomal microarray, and Sanger sequencing.

show abstract

“…Ptozise telekantus, epikantus, inversus vs nin eşlik ettiği durumlarda konjenital etyoloji daima ön plandadır (6,2,7,37 (2,11,12).…”

Section: G2guanetidinunclassified

The evaluation of blepharoptosis etiology from the point of forensic medicine

Kandemir¹,

Kantarcı²,

Berber³

et al. 2012

Adli Tip Derg

View full text Add to dashboard Cite

Saethre-Chotzen Syndrome: A Case Report

Cited by 12 publications

References 15 publications

An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors

An evolutionarily conserved DNA architecture determines target specificity of the TWIST family bHLH transcription factors

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

The evaluation of blepharoptosis etiology from the point of forensic medicine

Contact Info

Product

Resources

About