Treacher Collins Syndrome

Locus Gene (OMIM) Genomic Location Inheritance Key Reference (PubMed)
TCOF1 TCOF1 5q32-q33.1 Autosomal Dominant Dixon et al., 1996
TCOF2 POLR1D 13q12.2 Autosomal Dominant Dauwerse et al., 2010
TCOF3 POLR1C 6p21.1 Autosomal Recessive Dauwerse et al., 2010


Treacher Collins syndrome is characterized by coloboma of the lower eyelid (the upper eyelid is involved in Goldenhar syndrome), micrognathia, microtia, hypoplasia of the zygomatic arches, macrostomia, and inferior displacement of the lateral canthi with respect to the medial canthi. The disease-causing gene, TCOF1, encodes a protein of 1,411 amino acids (TREACLE) with a structure that is shared with nucleolar trafficking proteins in other species, suggesting that TCOF1 plays a role in nucleolar-cytoplasmic transport. The detection rate for mutations in this gene in persons with the TCOF1 phenotype is approximately 60%, and in nearly all cases, the result is the introduction of a premature stop codon into the predicted protein ( Edwards et al., 1997 ).