Mutacje eksonu 1, 11 oraz 20 genu TCOF1 u chorych z zespołem Treachera Collinsa

• Autorzy: Wierzbicka B. , Marszalek-Kruk B. , Wojcicki P. , Smigiel R. , Kosowska B. , Moska M. , Strzala T.

Warianty tytułu

EN

Mutations of 1, 11 and 20 exons of the TCOF1 gene in patients with Treacher Collins syndrome

• Języki publikacji: PL

Abstrakty

PL

EN

Słowa kluczowe

PL

genetyka; choroby czlowieka; wady wrodzone; zespol Treachera Collinsa; gen TCOF1; mutacje; polimorfizm

• Wydawca: -
• Czasopismo: Zeszyty Naukowe Uniwersytetu Przyrodniczego we Wrocławiu. Biologia i Hodowla Zwierząt
• Rocznik: 2009
• Tom: 59
• Opis fizyczny: s.55-64,rys.,tab.,bibliogr.

Twórcy

autor

Wierzbicka B.

• Katedra Genetyki i Ogólnej Hodowli Zwierząt, Uniwersytet Przyrodniczy we Wrocławiu, Wrocław

autor

Marszalek-Kruk B.

• Katedra Genetyki i Ogólnej Hodowli Zwierząt, Uniwersytet Przyrodniczy we Wrocławiu, Wrocław

autor

Wojcicki P.

• Szpital Chirurgii Plastycznej, Uniwersytet Medyczny we Wrocławiu, Wrocław

autor

Smigiel R.

• Katedra Genetyki, Uniwersytet Medyczny we Wrocławiu, Wrocław

autor

Kosowska B.

• Katedra Genetyki i Ogólnej Hodowli Zwierząt, Uniwersytet Przyrodniczy we Wrocławiu, Wrocław

autor

Moska M.

• Katedra Genetyki i Ogólnej Hodowli Zwierząt, Uniwersytet Przyrodniczy we Wrocławiu, Wrocław

autor

Strzala T.

• Katedra Genetyki i Ogólnej Hodowli Zwierząt, Uniwersytet Przyrodniczy we Wrocławiu, Wrocław

Bibliografia

• Andrade E.C., Junior V.S., Didoni A.L. S., Freitas P.Z., Carneiro A.F., Yoshimoto F.R., 2006. Treacher Collins syndrome with choanal atresia: a case report and review of disease features. Rev. Bras. Otorrinolaringol., 71(1): 107-10.
• Dixon J., Ellis I., Bottani A., Temple K., Dixon M.J., 2004. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am. J. Me. Genet.,127A: 244-248.
• Dixon J., Trainor P., Dixon M.J., 2007. Treacher Collins syndrome. Orthod Craniofac Res., 10 (2): 88-95.
• Edwards S.J., Gladwin A.J., Dixon M.J., 1997. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet., 60: 515-524.
• Ellis P.E., Dawson M.I., Dixon M.J., 2002. Mutation testing in Treacher Collins syndrome. J. Orthod., 29(4): 293-7.
• Gladwin A.J., Dixon J., Loftus S.K., Edwards S., Wasmuth J.J., Hennekam R.C.M., Dixon M.J., 1996. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet., 10: 1533-1538.
• Horiuchi K., Ariga T., Fujioka H., Kawashima K., Yamamoto Y., Igawa H., Sakiyama Y., Sugi- hara T., 2004. Treacher Collins syndrome with craniosynostosis, choanal atresia and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am J Med Genet., 128A: 173-175.
• Horiuchi K., Ariga T., Fujioka H., Kawashima K., Yamamoto Y., Igawa H., Sakiyama Y., Sugihara T., 2005. Mutational analysis of the TCOF1 gene in 11 japanese patients with Treacher Collins syndrome and mechanism of mutagenesis. Am J Med Genet., 134A: 363-367.
• Isaac C., Marsh K.L., Paznakas W.A., Dixon J., Dixon M.J., Jabs E.W., Meier U.T., 2000. Charac-terization of the nucleolar gene produkt, treacle, in Treacher Collins syndrome. Mol Biol.Cell., 11(9): 3061-3071.
• Jones N.C., Farlie P.G., Minichiello F., Newgreen D.N., 1999. Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Hum Mol Genet., 12: 2239-2245.
• Madhan R., Nayar S., 2006. Prosthetic management of a patient with Treacher Collins syndrome. Indian J Dent Res.,17(2): 78-81.
• Marsh K. L., Dixon J., Dixon M. J., 1998. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Hum. Mol. Genet., 7: 1795-1800.
• Marszałek B., Wójcicki P., Kobus K., Trzeciak W.H., 2002. Clinical features, treatment and genetic background of Treacher Collins syndrome. J. Appl. Genet., 43(2): 223-233.
• Marszałek-Kruk B., Wójcicki P., Kobus K., Trzeciak W.H., 2006. Genetic polymorphism of TCOF1 does not correlate with symptoms of Treacher Collins syndrome. Polski Przegląd Chirurgiczny, 78, 11: 1239-1251.
• Paznekas W.A., Zhang N., Gridley T., Jabs E.W., 1997. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Biochem Biophys Res Commun., 238: 1-6.
• Shoo B.A., McPherson E., Jabs E.W., 2004. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. Am. J. Med. Genet., 126A: 84-88.
• So R.B., Gonzales B., Henning D., Dixon J., Dixon M.J., Valdez B.C., 2004. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 328: 4957.
• Splendore A., Silva E.O., Alonso L.G., Richeri-Costa A., Alonso N., Rosa A., Carakushanky G., Cavalcanti D.P., Brunoni D., Passos-Bueno R.R., 2000. High mutation detection rate in TCOF1
• among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum. Mutat., 16: 315-322.
• Splendore A., Jabs E.W., Passon-Bueno M.R., 2002a. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense that suggests an important functional domain in the protein treacle. J. Med. Genet., 39: 493-495.
• Splendore A., Jabs E.W., Passon-Bueno M.R., Van Maldergem L., Wulfsberg E.A. 2002b. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J. Med. Genet., 111: 324-327.
• Splendore A., Fanganiello R.D., Masotti C., Morganti L.A.C., Passos-Bueno M.R., 2005. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum. Mutat., 25, 429-434.
• Su P.H., Chen J.Y., Chen S.J., Yu J.S., 2006. Treacher Collins syndrome with a de Novo 5-pb deletion in the TCOF1 gene. J. Formos Med. Assoc., 105,6: 518-521.
• Teber Ö.A., Gillessen-Kaesbach G., Fischer S., Böhringer S., Albrecht B., Albert A., Arslan-Kirch- ner M., Haan E., Hagedorn-Greiwe M., Hammans C., Henn W., Hinkel G.K., König R., Kunstman K., Kunze J., Neumann L.M., Prott E.C., Rauch A., Rott H.D., Seidel H., Spranger S., Sprangel M., Zoll B., Lohmann D.R., Wieczorek D., 2004. Genotyping In 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur. J. Hum. Genet., 1-12.
• Wise C.A., Chiang L.C., Paznekas W.A., Sharma M., Musy M.M., Ashley J.A., Lovett M., Jabs E.W., 1997. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci., 94: 31103115.
• Winokur S.T., Shiang R., 1998. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Hum. Mol. Genet., 12:1947-1952.
• Wójcicki P., Marszałek-Kruk B., 2005. Uwarunkowania genetyczne oraz zasady leczenia zespołu Treachera Collinsa. Dent. Med. Probl., 42, 4: 619-626.