Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome

@article{Group1996PositionalCO,
  title={Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome},
  author={The Ntd Collaborative Group and Jill Dixon and Sara J. Edwards and Amanda Gladwin and Michael James Dixon and Stacie K Loftus and Cynthia A. Bonner and Kathryn E. Koprivnikar and John J. Wasmuth},
  journal={Nature Genetics},
  year={1996},
  volume={12},
  pages={130-136}
}
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32–33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different… Expand
Treacher Collins syndrome.
TLDR
The identification of 20 mutations spread throughout the gene, all of which would result in the insertion of a premature termination codon into the reading frame, suggests that the mechanism underlying the disease is haploinsufficiency. Expand
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
TLDR
Observations suggest that phosphorylation may be important for its role in early embryonic development and that it may play a role in nucleolar-cytoplasmic shuttling. Expand
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
TLDR
First direct evidence that treacle is a nucleolar protein is provided, which supports the hypothesis that an integral part of treacle's function involves shuttling between the nucleolus and the cytoplasm. Expand
Clinical features, treatment and genetic background of Treacher Collins syndrome.
TLDR
Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle, and current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background are described. Expand
Treacher Collins syndrome.
  • M. Dixon
  • Biology, Medicine
  • Journal of medical genetics
  • 1995
TLDR
In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death in the neuroepithelium, whichresults in a reduced number of Neural crest cells migrating into the developing craniofacial complex. Expand
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
TLDR
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. Expand
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
TLDR
A 1-day-old male infant with classical TCS presentation is described, and a 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. Expand
Genetic causes of hearing loss.
  • F. Cremers
  • Biology, Medicine
  • Current opinion in neurology
  • 1998
TLDR
In patients with X-linked deafness type 3, a hotspot for deletions was found 900 kb proximal to the causal gene POU3F4, and the connexin 26 gene is mutated in approximately 50% of all recessive deafness families, enabling early diagnosis and carrier detection. Expand
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
TLDR
Almost all the TCOF1 pathogenic mutations fall in the coding region and lead to an aberrant protein, resulting in a truncated protein. Expand
A Case of Treacher Collins Syndrome
TLDR
This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). Expand
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References

SHOWING 1-10 OF 42 REFERENCES
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
TLDR
Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1. Expand
Transcriptional map of the Treacher Collins candidate gene region.
TLDR
A transcriptional map of this candidate gene region, generated by analysis of exon amplification clones, has identified the genomic location of four genes, heparan sulfate-n-sulfotransferase-N-deacetylase, glutathione peroxidase, as well as two novel, previously uncharacterized genes that must be considered candidates for TCOF1 locus. Expand
Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
TLDR
Eight short tandem repeat polymorphisms are analysed for linkage to TCOF1 in a large family with multiple affected individuals and the results are used to make diagnostic predictions in certain mildly affected and apparently unaffected individuals. Expand
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
TLDR
It is shown that some families with WS have mutations in the human homologue9 of Pax-3, which is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development and which contains a highly conserved transcription control sequence, the paired box. Expand
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
TLDR
The results of the present investigation have allowed us to confirm that the RPS14 locus lies proximal to the critical region and can thereby be excluded from a role in the pathogenesis of TCOF1, while ANX6 lies within the T COF1critical region and remains a potential candidate for the mutated gene. Expand
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
TLDR
To more accurately define the genetic distance between these markers, and to extend a high resolution genetic map of 5q31-33 to include additional highly informative markers, 15 loci (including polymorphisms for 4 known genes) were mapped through the Centre d'Etude du Polymorphisme Humain reference pedigrees. Expand
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
TLDR
A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q to provide further evidence of genetic homogeneity in this syndrome. Expand
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
TLDR
A mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression. Expand
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees.
TLDR
This is the first time nonpenetrance of TCS has been demonstrated convincingly and identification of the gene responsible for TCS is expected to be very useful in clinical practice. Expand
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.
TLDR
The refinement of the localization of the TCOF1 locus to 5q32-33, with flanking markers, represents an important step towards the identification of the mutated gene itself. Expand
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