Abstract
Here we describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T (p.Gln859*) and NM_001135243.2:c.4111G>T (p.Glu1371*). These mutations cause shortening of a protein called Treacle in patients with features typical of TCS. Continuous identification of new mutations is important to expand the mutation base, which is helpful in the diagnosis of both patients and their families
Highlights
Treacher Collins syndrome (TCS, OMIM 154500), called mandibulofacial dysostosis (MFD), was described in 1900 and extensively examined by Franceschetti and Klein in 19491
The TCOF1 gene has been cloned by the Treacher Collins Syndrome Collaborative Group[2]
TCOF1 encodes a 144 kDa nuclear phosphoprotein called Treacle, which is composed of 1488 amino acids[7]
Summary
Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome. We describe three novel TCOF1 mutations found in unrelated patients with Treacher Collins syndrome. These mutations include one deletion, NM_001135243.2:c.2604_2605delAG (p.Gly869Glufs*3), and two substitutions, NM_001135243.2:c.2575C>T These mutations cause shortening of a protein called Treacle in patients with features typical of TCS. Treacher Collins syndrome (TCS, OMIM 154500), called mandibulofacial dysostosis (MFD), was described in 1900 and extensively examined by Franceschetti and Klein in 19491. TCOF1 gene mutations are responsible for ~86% of TCS cases, POLR1C: 1.2%, POLR1D: 6%, and POLR1B: 1.3%4–6.
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