Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome (1999)
- Authors:
- USP affiliated authors: ZATZ, MAYANA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; COSTA, ANTONIO RICHIERI DA - HRAC
- Unidades: IB; HRAC
- Assunto: GENÉTICA MÉDICA
- Language: Inglês
- Abstract: Treacher Collins syndrome (TCS) is a well-characterized autossomal dominant disord aftecting craniofacial development the estlmated incidence 1/50.000 irvebirths with 60% of the cases resulting from fresh mutations. Great phenotypic variability is observed within and between families. The gene associated with the syndrome. TCOF1, mapped to chromosome 5Q32, was cloned in 1997. In order to characterize TCOF 1 mutations in 24 (14 sporadic and 10 familial) unrelated Brazilian patients with a clinical diagnosis of TCS. we screened the 25 coding exons ot the gene by SSCP. The exons displaying a mobility shirt were sequenced and tested in a 100-chromosome control sample. Thirty-five different mobility shirts were detected by SSCP. Eighteen of these were polymorphisms. Including 14 previously undescribed One. Of the 17 rare alterations that were not detected in the Control sample. 11 were new pathogenic atterations. Including 7 deletions and 4 insertions all causinga frameshit. Two other previously described pathoqenic mutations were also found: a splice-site alteration and a 5· bp deletion in exon 24. Interstinghly this deletion was found in a much higher proportion among our patients (5/24) as compared with other studies. The 6 remaining rare alterations were silent or intronic and two of them were also found in unaftcted relatives, suggesting that they are not the main cause of the syndrome. Furthermore, 4 patients presented one of these alterations in addition to a pathogenic mutation. The combination of such rare alterations or some of the polymorphisms with a frameshit mutation could be causing the marked phenotypic variability observed in TCS patients. The eftec trveness of SSCP in detecting the causative mutation in TCS patents is 75%. The 25% (6/24)undetected mutations could be due to lack of sensitivity of SSCP analysis of the presence of mutations in other regions of the gene as in the promoter or introns. Alternatively wecannot rule out a heterogeneous nature for TCS.
- Imprenta:
- Publisher place: San Francisco
- Date published: 1999
- Source:
- Título: American Journal of Human Genetics
- Volume/Número/Paginação/Ano: v. 65, n. 4, suppl., res.2798, oct. 1999
- Conference titles: American Society of Human Genetics
-
ABNT
SPLENDORE, A et al. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF. Acesso em: 28 dez. 2025. , 1999 -
APA
Splendore, A., Silva, E. O., Alonso, L. G., Brunoni, D., Alonso, N., Richieri-Costa, A., et al. (1999). Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF -
NLM
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF -
Vancouver
Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF - A new form of autosomal dominant late onset spinal muscular atrophy
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