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Treacher Collins Syndrome
Treacher Collins Syndrome
History and Current Research
1846- Thomson first noted malformations of the ears and correlation with hearing loss. See slides to the right and link to the cited publication.
1900- Collins first noted notches in the eyelids and malar bone deformities. See slides below and the link to the cited publication.
Collins, 1900
Collins, 1900
1996, January - The identification of the TCOF1 mutation in humans.
2011, January- POLR1C and POLR1D pathogenic variants are identified.
2020, March- POLR1B variants are first described.
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Dr. Edward Treacher Collins
Dr. Edward Treacher Collins (28 May 1862 – 13 December 1932)
A British surgeon and opthamologist known for describing Treacher Collins Syndrome in 1900 and later named for Treacher Collins Syndrome.
Summary of Treacher Collins Syndrome per NORD
Please visit the NORD website to learn more about Treacher Collins Syndrome.
Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive features of the head and face. Craniofacial differences tend to involve underdevelopment of the facial skeleton, cheekbones, jaws, palate and mouth which can lead to breathing and feeding difficulties. In addition, affected individuals may also have a downward slant of the opening between the upper and lower eyelids (palpebral fissures) and anomalies of external and middle ear structures, which may result in hearing loss. Brain and behavioral anomalies such as a small head (microcephaly) and psychomotor delay have also been occasionally reported as part of the condition. The specific symptoms and physical characteristics associated with TCS can vary greatly from one individual to another. Some individuals may be so mildly affected as to go undiagnosed, while others may develop serious, life-threatening complications. TCS is primarily caused by changes (variants or mutations) in the TCOF1 gene, but is also associated with variants in the POLR1B, POLR1C or POLR1D genes. In the case of TCOF1 and POLR1B, the mode of inheritance is autosomal dominant, while for POLR1C it is autosomal recessive. In contrast, both autosomal dominant and recessive variants in POLR1D have been reported in association with TCS.
Published Research:
Fitriasari S, Trainor PA. Gene-environment interactions in the pathogenesis of common craniofacial anomalies. Curr Top Dev Biol. 2023;152:139-168. doi: 10.1016/bs.ctdb.2022.10.005. Epub 2022 Nov 29. PMID: 36707210.
Marszałek-Kruk BA, Wójcicki P. Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome. Hum Genome Var. 2021 Sep 27;8(1):36. doi: 10.1038/s41439-021-00168-4. PMID: 34580285; PMCID: PMC8476508.
Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5. PMID: 19027870; PMCID: PMC3093759.
Sakai D, Trainor PA. Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development. Dev Growth Differ. 2016 Sep;58(7):577-85. doi: 10.1111/dgd.12305. Epub 2016 Aug 2. PMID: 27481486; PMCID: PMC5026570.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. PMID: 37075751; PMCID: PMC10183370.
Smith F, Fowler P, Ellis P. Long-term treatment outcomes from a patient's perspective with Treacher Collins syndrome. BMJ Case Rep. 2021 May 27;14(5):e241351. doi: 10.1136/bcr-2020-241351. PMID: 34045198; PMCID: PMC8162097.
Smith, Francis. (2022). Etiology and Anatomical Variation in Treacher Collins Syndrome. 10.1007/978-3-030-84733-3_13.
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity. Clin Genet. 2023 Feb;103(2):146-155. doi: 10.1111/cge.14243. Epub 2022 Oct 17. PMID: 36203321.
Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y. Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review. Int J Gynaecol Obstet. 2023 Dec;163(3):778-781. doi: 10.1002/ijgo.14881. Epub 2023 May 25. PMID: 37231986.
Current Research Labs:
Dr. Trainor Lab-
https://www.stowers.org/labs/trainor-lab
https://research.stowers.org/trainorlab/
Rare Disease DNA Bank for Research- Hunter is a part of this dna data bank and we hope our TCS friends will chose to do so as well so we can help continue advancements in research through studies like this.
