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GENATLAS PHENOTYPE
last update : 23-03-2011
Symbol TCS
Location 5q32
Name Treacher Collins-Franceschetti syndrome
Other name(s)
  • oculo-auriculo-vertebral spectrum.
  • mandibulofacial dysostosis
  • Treacher-Collins syndrome
  • Corresponding gene TCOF1
    Other symbol(s) TCFS, MFD1, TCS, OAVS
    Main clinical features
  • characterized by antimongoloid slant of eyes, coloboma of inferior lid, narrowing of the external ears and malformation of the middle ear ossicles which may lead to deafness, hypoplasia of the mandible (micrognathia), cleft palate and macrostomia
    • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    eye
    Type disease
    Gene product
    Name Treacle, the protein encoded by TCOF1, is involved in rRNA transcription by interacting with UBF10. Furthermore, Treacle has an essential role in ribosome biogenesis in vivo
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function in 67 p100 of patients
    various types   haploinsufficiency perturbs mature ribosome biogenesis, resulting in stabilization of TP53 and the cyclin G1¿mediated cell-cycle arrest that underpins the specificity of neuroepithelial apoptosis and neural crest cell hypoplasia
    Remark(s) the -346T allele impairs DNA-binding to the YY1 transcription factorand represents a candidate allele to explain the clinical variability in patients bearing TCOf1