First report of a single exon deletion in TCOF1 causing treacher collins syndrome

Molecular Syndromology

Volumn 2, Issue 2, 2011, Pages 53-59

  Beygo, J ^a   Buiting, K ^a   Seland, S ^a   Ludecke H J ^a   Hehr, U ^b   Lich, C ^a   Prager, B ^c   Lohmann, D R ^a   Wieczorek, D ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c ACADEMIC TEACHING HOSPITAL DRESDEN FRIEDRICHSTADT   (Germany)

Author keywords

Deletion; Multiplex ligation dependent probe amplification; TCOF1; Treacher Collins syndrome

Indexed keywords

MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; CLEFT PALATE; COLOBOMA; CONDUCTION DEAFNESS; EAR MALFORMATION; EXON; EYELID; FEMALE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HYPOPLASIA; MANDIBULOFACIAL DYSOSTOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLR1C GENE; POLR1D GENE; PRIORITY JOURNAL; TCOF1 GENE;

EID: 84856437762     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000335545     Document Type: Article

References (30)

1. Cartegni L, Chew SL, Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-298 (2002). (Pubitemid 34279797)
2. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, et al: Mutations in genes encoding subunits of RNA polymer-ases I and III cause Treacher Collins syn-drome. Nat Genet 43: 20-22 (2011).
3. 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 127A:244-248 (2004). (Pubitemid 38685864)
4. Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, et al: Tcof 1 /Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnor-malities. Proc Natl Acad Sci USA 103: 13403-13408 (2006). (Pubitemid 44380120)
5. Dixon J, Trainor P, Dixon MJ: Treacher Collins syndrome. Orthod Craniofac Res 10: 88-95 (2007).
6. Edwards SJ, Fowlie A, Cust MP, Liu DT, Young ID, Dixon MJ: Prenatal diagnosis in Treach-er Collins syndrome using combined link-age analysis and ultrasound imaging. J Med Genet 33: 603-606 (1996). (Pubitemid 26232407)
7. Edwards SJ, Gladwin AJ, Dixon MJ: The muta-tional spectrum in Treacher Collins syn-drome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 60: 515-524 (1997). (Pubitemid 27097599)
8. Ellis PE, Dawson M, Dixon MJ: Mutation testing in Treacher Collins Syndrome. J Orthod 29: 293-297; discussion 278 (2002).
9. Gladwin AJ, Dixon J, Loftus SK, Edwards S, Was-muth JJ, et al: Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termi-nation codon into the gene. Hum Mol Genet 5: 1533-1538(1996). (Pubitemid 26328868)
10. Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, et al: Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins syndrome and mechanism of mutagenesis. Am J Med Genet A 134: 363-367 (2005). (Pubitemid 40604062)
11. Isaac C, Marsh KL, Paznekas WA, Dixon J, Dix-on MJ, et al: Characterization of the nucleo-lar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 11: 3061-3071 (2000). (Pubitemid 32107083)
12. Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, et al: Prevention of the neurocristopathy Treacher Collins syndrome through inhibi-tion of p53 function. Nat Med 14: 125-133 (2008). (Pubitemid 351214559)
13. Kanber D, Giltay J, Wieczorek D, Zogel C, Hoch-stenbach R, et al: A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 17: 582-590 (2009).
14. Larkin RM, Guilfoyle TJ: Reconstitution of yeast and Arabidopsis RNA polymerase alpha-like subunit heterodimers. J Biol Chem 272: 12824-12830 (1997). (Pubitemid 27203384)
15. Marsh KL, Dixon J, Dixon MJ: Mutations in the Treacher Collins syndrome gene lead to mis-localization of the nucleolar protein treacle. Hum Mol Genet 7: 1795-1800 (1998). (Pubitemid 28464155)
16. Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, et al: A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene 359: 44-52 (2005). (Pubitemid 41338710)
17. Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Felix TM, et al: Reduced transcrip-tion of TCOF1 in adult cells of Treacher Col-lins syndrome patients. BMC Med Genet 10: 136 (2009).
18. Posnick JC, Ruiz RL: Treacher Collins syn-drome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J 37: 434 (2000).
19. So RB, Gonzales B, Henning D, Dixon J, Dixon M J, Valdez BC: Another face of the Treacher Collins syndrome (TCOF1) gene: identifica-tion of additional exons. Gene 328: 49-57 (2004). (Pubitemid 38352880)
20. Splendore A, Silva EO, Alonso LG, Richieri-Cos-ta A, Alonso N et al: High mutation detec-tion rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mu-tations and 16 novel pathogenic changes. Hum Mutat 16: 315-322 (2000).
21. Splendore A, Jabs EW, Passos-Bueno MR: Screening of TCOF1 in patients from differ-ent populations: confirmation of mutational hot spots and identification of a novel mis-sense mutation that suggests an important functional domain in the protein treacle. J Med Genet 39: 493-495 (2002). (Pubitemid 34787743)
22. Splendore A, Fanganiello RD, Masotti C, Mor-ganti LS, Passos-Bueno MR: TCOF1 muta-tion database: novel mutation in the alterna-tively spliced exon 6A and update in muta-tion nomenclature. Hum Mutat 25: 429-434 (2005). (Pubitemid 40675291)
23. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, et al: Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unex-pected phenotypic variation. Eur J Hum Genet 12: 879-890 (2004). (Pubitemid 39462121)
24. The Treacher Collins Syndrome Collaborative Group, Dixon J, Edwards SJ, Gladwin AJ, Dixon MJ, et al: Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12, 130-136 (1996). (Pubitemid 26051291)
25. Trainor PA: Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A 152A:2984-2994 (2010).
26. Trainor PA, Dixon J, Dixon MJ: Treacher Collins syndrome: etiology, pathogenesis and pre-vention. Eur J Hum Genet 17: 275-283 (2009).
27. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ: The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with up-stream binding factor. Proc Natl Acad Sci USA 101: 10709-10714(2004). (Pubitemid 38955807)
28. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, et al: TCOF1 gene encodes a puta-tive nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 94: 3110-3115 (1997). (Pubitemid 27157272)
29. Yao Y, Yamamoto K, Nishi Y, Nogi Y, Muramat-su M: Mouse RNA polymerase I 16-kDa sub-unit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. J Biol Chem 271: 32881-32885 (1996). (Pubitemid 27008720)
30. Zeschnigk M, Martin M, Betzl G, Kalbe A, Sirsch C, et al: Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete. Hum Mol Genet 18: 1439-1448 (2009).