Journal Article

Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene

Amanda J. Gladwin, Jill Dixon, Stacie K. Loftus, Sara Edwards, John J. Wasmuth, Raoul C. M. Hennekam and Michael J. Dixon

in Human Molecular Genetics

Volume 5, issue 10, pages 1533-1538
Published in print October 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.10.1533
Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene

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Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Recently, the Treacher Collins syndrome gene (TCOF1) has been positionally cloned and a series of five mutations within the coding sequence of the gene identified. In the current investigation, seven exons of TCOF1 have been identified which has permitted the identification of additional mutations in the gene. The mutations that have been identified are three distinct deletions and an insertion, which cause a frameshift, and a missense mutation which inactivates a donor splice site with extension of transcription into the intron. To date, all 10 of the mutations which have been reported result in a premature termination codon and are unique to a given family. As these mutations are spread throughout the gene, these observations provide further support for the hypothesis that Treacher Collins syndrome results from haploinsufficiency, although a dominant negative effect cannot, at this stage, be excluded.

Journal Article.  4182 words.  Illustrated.

Subjects: Genetics and Genomics

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