Precision diagnosis and treatment for Treacher Collins syndrome: preclinical perspectives
-
-
关键词:
- Treacher Collins综合征 /
- 遗传异质性 /
- 核糖体病 /
- 神经嵴细胞 /
- 鳃弓
-
Key words:
- Treacher Collins syndrome /
- genetic heterogeneity /
- ribosomopathy /
- neural crest cell /
- pharyngeal arch
-
[1] KATSANIS S H, JABS E W. Treacher Collins Syndrome[M]//ADAM M P, ARDINGER H H, PAGON R A, eds. GeneReviews(R).Seattle:University of Washington, 2012:1993-2018.
[2] COBB A R, GREEN B, GILL D, et al. The surgical management of Treacher Collins syndrome[J]. Br J Oral Maxillofac Surg, 2014, 52:581-589.
[3] PASSOS-BUENO M R, ORNELAS C C, FANGANIELLO R D. Syndromes of the first and second pharyngeal arches:A review[J]. Am J Med Genet A, 2009, 149A:1853-1859.
[4] ZHANG X, FAN Y, ZHANG Y, et al. A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome[J]. Int J Pediatr Otorhinolaryngol, 2013, 77:1410-1415.
[5] TERRAZAS K,DIXON J,TRAINOR P A,et al. Rare syndromes of the head and face:mandibulofacial and acrofacial dysostoses[J]. Wiley Interdiscip Rev Dev Biol, 2017, 6:Epub 2017 Feb 10.
[6] KADAKIA S, HELMAN S N, BADHEY A K, et al. Treacher Collins Syndrome:the genetics of a craniofacial disease[J]. Int J Pediatr Otorhinolaryngol, 2014, 78:893-898.
[7] ALFI D,LAM D,GATENO J. Branchial arch syndromes[J]. Atlas Oral Maxillofac Surg Clin North Am, 2014, 22:167-173.
[8] 王璞,范欣淼,樊悦,等. Treacher Collins综合征的研究进展[J]. 临床耳鼻咽喉头颈外科杂志,2016,30(4):333-338.
[9] ET C. Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones[J]. Trans Ophthalmol Soc U K, 1900, 20:190-192.
[10] GORLIN R J, COHEN M M Jr, HENNEKAM R C M. Syndromes of the head and neck[M].4th ed. New York:Oxford University Press,2001:799-801.
[11] MCKENZIE J, CRAIG J. Mandibulo-facial dysostosis (Treacher Collins syndrome)[J]. Arch Dis Child, 1955, 30:391-395.
[12] HALBERG G P, PAUNESSA J M. An incomplete form of mandibulo-facial dysostosis; Franceschetti's syndrome[J]. Br J Ophthalmol, 1949, 33:709-713.
[13] FRANCESCHETTI A, KLEIN D. The mandibulofacial dysostosis; a new hereditary syndrome[J]. Acta Ophthalmol (Copenh), 1949, 27:143-224.
[14] BERNIER F P, CALUSERIU O, NG S, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome[J]. Am J Hum Genet, 2012, 90:925-933.
[15] DIXON M J,READ A P,DONNAI D,et al. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5[J]. Am J Hum Genet, 1991, 49:17-22.
[16] [No authors listed]. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group[J]. Nat Genet,1996,12:130-136.
[17] DAUWERSE J G, DIXON J, SELAND S, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome[J]. Nat Genet, 2011, 43:20-22.
[18] CESARETTI C, GENTILIN B, BIANCHI V, et al. Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations[J]. Clin Dysmorphol, 2011, 20:229-231.
[19] SCHAEFER E, COLLET C, GENEVIEVE D, et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome[J]. Genet Med, 2014, 16:720-724.
[20] SAUDI MENDELIOME GROUP. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases[J]. Genome Biol, 2015, 16:134.
[21] VINCENT M, GENEVIEVE D, OSTERTAG A,et al. Treacher Collins syndrome:a clinical and molecular study based on a large series of patients[J]. Genet Med, 2016, 18:49-56.
[22] HAO S, JIN L, WANG H, et al. Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients with Treacher Collins Syndrome[J]. J Craniofac Surg, 2016, 27:e583-586.
[23] AHMED M K, YE X, TAUB P J. Review of the Genetic Basis of Jaw Malformations[J]. J Pediatr Genet, 2016, 5:209-219.
[24] DAI J, SI J, WANG M, et al. Tcof1-Related Molecular Networks in Treacher Collins Syndrome[J]. J Craniofac Surg, 2016, 27:1420-1426.
[25] DE PERALTA M S,MOUGUELAR V S,SDRIGOTTI M A,et al. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes[J]. Cell Death Dis, 2016, 7:e2397.
[26] TRAINOR P A. Craniofacial birth defects:The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention[J]. Am J Med Genet A, 2010, 152A:2984-2994.
[27] SAKAI D,TRAINOR P A. Face off against ROS:Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development[J]. Dev Growth Differ, 2016, 58:577-585.
[28] WALKER-KOPP N, JACKOBEL A J, PANNAFINO G N, et al. Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity[J]. Hum Mol Genet,2017,26:4290-4300.
[29] NOACK WATT K E,ACHILLEOS A,NEBEN C L,et al. The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome[J]. PLoS Genet, 2016, 12:e1006187.
[30] TSE W K. Treacher Collins syndrome:New insights from animal models[J]. Int J Biochem Cell Biol, 2016, 81:44-47.
[31] LAU M C, KWONG E M, LAI K P, et al. Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model[J]. Biochim Biophys Acta, 2016, 1862:1147-1158.
[32] KWONG E M,HO J C H,LAU M C,et al. Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish[J]. Am J Pathol, 2018, 188:336-342.
[33] SAKAI D,DIXON J,ACHILLEOS A,et al. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation[J]. Nat Commun, 2016, 7:10328.
[34] CHANG C C, STEINBACHER D M. Treacher collins syndrome[J]. Semin Plast Surg, 2012, 26:83-90.
计量
- 文章访问数: 81
- PDF下载数: 16
- 施引文献: 0