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Mutations in the human TWIST gene.

K W Gripp1, E H Zackai, C A Stolle

  • 1Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. gripp@email.chop.edu

Human Mutation
|January 29, 2000
PubMed
Summary
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Saethre-Chotzen syndrome, a craniosynostosis disorder, is often caused by mutations in the TWIST gene. Haploinsufficiency, resulting from gene deletions or nonsense mutations, is the likely mechanism, with no clear genotype-phenotype correlation observed.

Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis disorder.
  • Mutations in the TWIST gene are implicated in Saethre-Chotzen syndrome.
  • The TWIST gene encodes a transcription factor crucial for development.

Purpose of the Study:

  • To review mutations in the TWIST gene associated with Saethre-Chotzen syndrome.
  • To investigate the genetic basis and disease-causing mechanisms.
  • To identify novel mutations and polymorphisms.

Main Methods:

  • Review of existing literature and patient data.
  • Analysis of TWIST gene mutations, including point mutations, nonsense mutations, and large deletions.
  • Genetic studies in patients with Saethre-Chotzen syndrome.

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Main Results:

  • TWIST gene abnormalities are found in approximately 80% of Saethre-Chotzen syndrome patients.
  • Large deletions of the TWIST gene are present in up to 37% of affected individuals.
  • Novel point mutations and a polymorphism in the TWIST gene were identified.

Conclusions:

  • Haploinsufficiency due to TWIST gene deletions or nonsense mutations is the probable cause of Saethre-Chotzen syndrome.
  • Learning disabilities or mental retardation in some patients may be linked to large TWIST gene deletions.
  • No clear genotype-phenotype correlation was observed in the studied cases.