Treacher Collins syndrome

Definition:

Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

References:

[1]. Bianca Gonzales, et al. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 2005 Jul 15;14(14):2035-43. [Content Brief]

[2]. Daisuke Sakai, et al. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. [Content Brief]

[3]. Elodie Sanchez, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020 Mar;22(3):547-556. [Content Brief]

[4]. Emily F Freed, et al. When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst. 2010 Mar;6(3):481-93. [Content Brief]

[5]. Johannes G Dauwerse, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. [Content Brief]

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