Human Molecular Genetics, Vol 5, 1533-1538, Copyright © 1996 by Oxford University Press
AJ Gladwin, J Dixon, SK Loftus, S Edwards, JJ Wasmuth, RC Hennekam and MJ Dixon
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.
ARTICLES
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene
School of Biological Sciences, University of Manchester, UK.
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