Entry |
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Name |
Treacher Collins syndrome |
Description |
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.
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Category |
Ribosomopathy
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Brite |
Human diseases [BR:br08402]
Other congenital disorders
Ribosomopathies
H00610 Treacher Collins syndrome
Human diseases in ICD-10 classification [BR:br08403]
17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
Q75 Craniosynostosis
H00610 Treacher Collins syndrome
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Pathway |
hsa03008 Ribosome biogenesis in Eukaryotes | |
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Gene |
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Other DBs |
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Reference |
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Authors |
Freed EF, Bleichert F, Dutca LM, Baserga SJ |
Title |
When ribosomes go bad: diseases of ribosome biogenesis. |
Journal |
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Reference |
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Authors |
Sakai D, Trainor PA |
Title |
Treacher Collins syndrome: unmasking the role of Tcof1/treacle. |
Journal |
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Reference |
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Authors |
Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC |
Title |
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. |
Journal |
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Reference |
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Authors |
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D |
Title |
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. |
Journal |
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