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

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Fernanda Sarquis JeheeMaria Rita Passos-Bueno

Abstract

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. 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 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. 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 studie...Continue Reading

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Citations

Oct 5, 2013·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Pinar Karabagli
Aug 9, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Wanda LattanziConcezio Di Rocco
Apr 28, 2009·American Journal of Medical Genetics. Part a·Keiko Shimojima, Toshiyuki Yamamoto
May 3, 2008·American Journal of Medical Genetics. Part a·Mariëlle E M SwinkelsConny M A van Ravenswaaij-Arts
Sep 14, 2007·American Journal of Medical Genetics. Part a·Brigitte H W FaasBert B A de Vries
Jun 29, 2010·American Journal of Medical Genetics. Part a·Donna M McDonald-McGinnElaine H Zackai
May 27, 2010·American Journal of Medical Genetics. Part a·Usha KiniAndrew O M Wilkie
Mar 14, 2008·European Journal of Human Genetics : EJHG·Claudia TornieroOrsetta Zuffardi
Apr 24, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Victor M Salinas-Torres

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