Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Erika Cristina Lopes Burrone de FreitasVera Lúcia Gil-da-Silva-Lopes

Abstract

To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed. Exons IIIa and IIIc of FGFR2 were sequenced also. The mutation was confirmed by both restriction-enzyme digestion and allelic-specific polymerase chain reaction. Neither TWIST gene analysis nor analysis of the P250R mutation on gene FGFR3 showed mutation within the coding sequence. A nucleotide change from CAG to CCG in exon IIIa of the FGFR2 gene that caused a Q289P mutation was detected, although exon IIIc in the propositus was normal. These same results were detected in his mother, but no other members of the kindred presented clinical features consistent with Saethre-Chotzen syndrome. This mutation was previously reported in individuals with Crouzon and Jackson-Weiss syndromes. The FGFR2 mutation in the family with Saethre-Chotzen syndrome herein reported reinforces the idea of an interaction among TWIST and FGFR genes during develop...Continue Reading

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May 21, 2004·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Sandra R D NascimentoVera L Gil da Silva Lopes

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Citations

Dec 11, 2008·European Journal of Pediatrics·Maria PiccioneGiovanni Corsello
May 29, 2012·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·R Vidal SanahujaJ M Costa Clara
Aug 4, 2011·Journal of Dental Research·R M CruzS F Oliveira
Oct 29, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·William A PeñaSnehlata Oberoi

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