Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Abstract Background Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene.These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD).Haploinsufficiency of the gene product (treacle)