TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

@article{Splendore2005TCOF1MD,
  title={TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature},
  author={Alessandra Splendore and R. Fanganiello and Cibele Masotti and Lucas S.C. Morganti and Maria Rita Passos‐Bueno},
  journal={Human Mutation},
  year={2005},
  volume={25}
}
Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to current mutation nomenclature guidelines. Given these observations, we developed an online database of TCOF1 mutations in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences (www.genoma.ib.usp.br… Expand
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TLDR
This is the first TCS case who diagnosed molecularly in Korea, and a novel, heterozygotic mutation in exon 23 of the TCOF1 gene was identified. Expand
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TLDR
The mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome suggests the possibility of genetic heterogeneity or different mechanisms leading to the disease. Expand
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TLDR
A cohort of 112 patients with a tentative clinical diagnosis of TCS was investigated by multiplex ligation-dependent probe amplification (MLPA) to search for larger deletions not detectable with other methods used and identified a 3.367 kb deletion, which is the first described single exon deletion within TCOF1. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
The present report is the first to identify an association between phenotypic variability and TCOF1 gene mutations and thus contributes to the understanding of the association between the genotype and phenotype in patients with TCS and offers clinically relevant information for diagnosis of the syndrome. Expand
Novel mutations of TCOF 1 gene in European patients with Treacher Collins syndrome
Background Treacher Collins syndrome [TCS] is one of the most severe autosomal dominant congenital disorders of craniofacial development, showing a variable phenotypic expression. TCS is extremelyExpand
Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome
TLDR
The findings expand the TCOF1 mutation spectrum indicating that dosage analysis should be performed together with sequence analysis, a strategy that is predicted to have a sensitivity of 71% for patients in whom TCS is strongly suspected. Expand
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References

SHOWING 1-10 OF 35 REFERENCES
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
TLDR
Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single‐nucleotide polymorphisms within its coding region and suggesting a possible different mechanism leading to TCS or genetic heterogeneity for this condition. Expand
Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants
TLDR
Data validate the hypothesis that detailed evolutionary analyses help predict the consequences of missense amino-acid variants, and calculate p16 evolution using amino acid substitution matrices and nucleotide substitution distances, to the p16/Ink4a gene. Expand
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
TLDR
The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product. Expand
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
  • C. Wise, L. C. Chiang, +5 authors E. Jabs
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1997
TLDR
The entire exon/intron genomic structure and the complete coding sequence of TCOF1 are presented, postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development. 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
Standardizing mutation nomenclature: Why bother?
TLDR
Because of the importance of the issue and the overall consensus on the rules, Human Mutation is adopting an editorial policy that requests absolute compliance of these mutation nomenclature rules before manuscripts will be accepted and published. Expand
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
TLDR
In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented, and this mutational spectrum supports the hypothesis that TCS results from haploinsufficiency. Expand
Understanding missense mutations in the BRCA1 gene: An evolutionary approach
TLDR
Investigation of the functional role of missense changes in breast-cancer susceptibility should focus on 38 missenseChanges in conserved and 3 in rapidly evolving regions of exon 11, suggesting that selection is acting most strongly on the role of BRCA1 in DNA repair. Expand
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
TLDR
The observation that more than 50% of all described pathogenic mutations known to date are clustered in five exons has led to the hypothesis that theseFive exons are mutational hot spots, suggesting that any effort to identify mutations in TCOF1 would benefit from testing thesefive exons before extending the analysis to the rest of the gene. Expand
Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types
TLDR
The construction of a dog embryonic head/neck cDNA library and the isolation of the dog homolog of the Treacher Collins Syndrome gene, TCOF1, are described and a C396T variant, leading to a Pro117Ser substitution, is associated with skull/face shape in the dog panel. Expand
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