Treacher Collins Syndrome: the genetics of a craniofacial disease.
New York City, United States. In Int J Pediatr Otorhinolaryngol, 2014
The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis.
A case of treacher collins syndrome.
Edirne, Turkey. In Balkan J Med Genet, 2013
Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
London, United Kingdom. In Br J Oral Maxillofac Surg, 2013
Among the many syndromes that affect the region, understanding of the biology that underlies Treacher Collins syndrome has advanced in the last decade, particularly concerning the causative TCOF1 gene that encodes TREACLE protein, a serine/alanine-rich nucleolar phosphoprotein with an essential function during ribosome biogenesis in cranial neural crest cells.
Treacher Collins Syndrome
Seattle, United States. In Unknown Journal, 2004
Mutation of one of three genes is known to be causative: TCOF1 (78%-93% of individuals with TCS) and POLR1C or POLR1D (8%).