Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients

Autor Jehee, Fernanda Sarquis Google Scholar
Alonso, Luis Garcia Autor UNIFESP Google Scholar
Cavalcanti, Denise P. Google Scholar
Kim, Chong Google Scholar
Wall, Steven A. Google Scholar
Mulliken, John B. Google Scholar
Sun, Miao Google Scholar
Jabs, Ethylin Wang Google Scholar
Boyadjiev, Simeon A. Google Scholar
Wilkie, Andrew OM Google Scholar
Passos-Bueno, Maria Rita Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
John Radcliffe Hosp
Harvard Univ
Johns Hopkins Univ
Resumo Objective: Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes.Design: Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON.Patients: Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied.Results: No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role.Conclusions: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.
Palavra-chave CDON
CER1
craniosynostosis
FGFR1
metopic suture
trigonocephaly
Idioma Inglês
Data de publicação 2006-03-01
Publicado em Cleft Palate-craniofacial Journal. Lawrence: Alliance Communications Group Division Allen Press, v. 43, n. 2, p. 148-151, 2006.
ISSN 1055-6656 (Sherpa/Romeo, fator de impacto)
Publicador Alliance Communications Group Division Allen Press
Extensão 148-151
Fonte http://dx.doi.org/10.1597/04-206.1
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000236232000004
Endereço permanente http://repositorio.unifesp.br/handle/11600/28762

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