Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Conte, Chiara ^a   D'Apice, Maria R ^a,b   Rinaldi, Fabrizio ^b   Gambardella, Stefano ^c   Sangiuolo, Federica ^a,b   Novelli, Giuseppe ^a,b  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c Fondazione Livio Patrizi   (Italy)

Author keywords

Microdeletions; Microinsertions; Tcof1 mutations; Treacher collins syndrome

Indexed keywords

NUCLEOTIDE; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PRIMER DNA; TCOF1 PROTEIN, HUMAN;

ARTICLE; CLINICAL ARTICLE; DNA POLYMORPHISM; EXON; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; NUCLEOTIDE SEQUENCE; RNA TRANSLATION; TCOF1 GENE; EUROPE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; MALE; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EUROPE; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTAGENESIS, INSERTIONAL; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 80053341453     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-125     Document Type: Article

References (20)

1. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. Oxford University Press, 1990, Oxford, UK.
2. Treacher Collins E. Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Opthalmol Soc UK 1900, 20:90.
3. Franceschetti A, Klein D. The mandibulofacial dysostosis; a new hereditary syndrome. Acta Ophthalmol 1949, 27:143-224.
4. Phelps PD, Poswillo D, Lloyd GA. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin Otolaryngol Allied Sci 1981, 6:15-28. 10.1111/j.1365-2273.1981.tb01782.x, 7273449.
5. Splendore A, Jabs EW, Felix TM, Passos-Bueno MR. Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet 2003, 11:718-722. 10.1038/sj.ejhg.5201029, 12939661.
6. The Treacher Collins Syndrome Collaborative Group Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996, 12:130-136. The Treacher Collins Syndrome Collaborative Group.
7. 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. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011, 43:20-22. 10.1038/ng.724, 21131976.
8. Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 2002, 39:493-495. 10.1136/jmg.39.7.493, 1735178, 12114482.
9. So BR, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 2004, 328:49-57.
10. Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol Apr 1994, 3:96-103.
11. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000, 16:315-322. 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H, 11013442.
12. Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A 2004, 127A:244-248. 10.1002/ajmg.a.30010, 15150774.
13. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 1997, 94:3110-3115. 10.1073/pnas.94.7.3110, 20330, 9096354.
14. Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat 2005, 25:429-434. 10.1002/humu.20159, 15832313.
15. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12. 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N, 10612815.
16. Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004, 12:879-890. 10.1038/sj.ejhg.5201260, 15340364.
17. Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 1997, 60:515-524. 1712503, 9042910.
18. Ellis PE, Dawson M, Dixon MJ. Mutation testing in Treacher Collins Syndrome. J Orthod 2002, 29:293-297. 10.1093/ortho/29.4.293, 12444270.
19. Marres HA, Cremers CW, Dixon MJ, Huygen PL, Joosten FB. The Treacher Collins syndrome: correlation between clinical and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995, 121:509-514.
20. Fujioka H, Ariga T, Horiuchi K, Ishikiriyama S, Oyama K, Otsu M, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y. Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1. Pediatr Int 2008, (50):806-809.