1098-1004/asset/cover.gif?v=1&s=b02ab57a64d28403f477b09d50f72a4d63f4c8eb "Human Mutation")
Communicated by Marc Greenblatt
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Databases
TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature†
Article first published online: 14 APR 2005
DOI: 10.1002/humu.20159
© 2005 Wiley-Liss, Inc.
Additional Information
How to Cite
Splendore, A., Fanganiello, R. D., Masotti, C., Morganti, L. S. and Rita Passos-Bueno, M. (2005), TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Human Mutation, 25: 429–434. doi: 10.1002/humu.20159
- †
Publication History
- Issue published online: 20 APR 2005
- Article first published online: 14 APR 2005
- Manuscript Revised: 18 NOV 2004
- Manuscript Accepted: 18 NOV 2004
- Manuscript Received: 4 AUG 2004
Funded by
- Centros de Pesquisa, Inovação e Difusão/Fundação de Amparo à Pesquisa do Estado de São Paulo (CEPID/F́APESP)
- Conselho Nacional de Desenvolvimento Cientifico e Tecnológico (CNPq)
- Abstract
- References
- Cited By
Keywords:
- TCOF1;
- Treacher Collins syndrome;
- database;
- mutation nomenclature
Abstract
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/TCOF1_database). We also report in this work: 1) results of the first screening for large deletions in TCOF1 by Southern blot in patients without mutation detected by direct sequencing; 2) the identification of the first pathogenic mutation in the newly described exon 6A; and 3) statistical analysis of pathogenic mutations and polymorphism distribution throughout the gene. Hum Mutat 25:429–434, 2005. © 2005 Wiley-Liss, Inc.