High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

@article{Splendore2000HighMD,
  title={High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.},
  author={Alessandra Splendore and Elias Oliveira da Silva and Luis G. Alonso and Ant{\^o}nio Richieri-Costa and N. Pineda Alonso and Alexandra A. De Rosa and G Carakushanky and Denise Pontes Cavalcanti and D{\'e}cio Brunoni and Maria Rita Santos Passos-Bueno},
  journal={Human mutation},
  year={2000},
  volume={16 4},
  pages={315-22}
}
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel… CONTINUE READING