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TCOF1 (Treacle) and the Treacher-Collins Syndrome 

TCOF1 (Treacle) and the Treacher-Collins Syndrome
Chapter:
TCOF1 (Treacle) and the Treacher-Collins Syndrome
Author(s):

Jill Dixon

, Paul A. Trainor

, and Michael J. Dixon

DOI:
10.1093/med/9780199934522.003.0159
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date: 27 February 2021

Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder that occurs with an incidence of ~1/50,000 live births. More than 60% of cases do not have a previous family history and appear to arise by de novo mutation. The tissues affected in TCS are derived from the first and second branchial arches, which are populated by cranial neural crest cells. On this basis, several hypotheses were proposed to explain the cellular effects of TCS. These included abnormal neural crest cell migration, improper cellular differentiation during development, or an abnormality of the extracellular matrix. Molecular genetic methods resulted in the identification of the gene mutated in TCS, designated TCOF1, that encodes a low complexity, serine/alanine-rich, nucleolar phosphoprotein named Treacle. More recently, the integration of molecular biology, cell biology, mouse genetics, and experimental embryology has provided new insights into the molecular pathogenesis of TCS (reviewed in van Gijn et al 2013).

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