Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196672
Type: Artigo de periódico
Title: Q289p Mutation In Fgfr2 Gene Causes Saethre-chotzen Syndrome: Some Considerations About Familial Heterogeneity.
Author: Freitas, Erika Cristina Lopes Burrone de
Nascimento, Sandra Regina Dantas
de Mello, Maricilda Palandi
Gil-da-Silva-Lopes, Vera Lúcia
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 development. Absence of the Q289P mutation in some affected individuals in this family is discussed.
Subject: Acrocephalosyndactylia
Algorithms
Craniosynostoses
Exons
Female
Genetic Heterogeneity
Humans
Male
Mutation
Nuclear Proteins
Polymerase Chain Reaction
Receptor, Fibroblast Growth Factor, Type 2
Twist Transcription Factor
Rights: fechado
Identifier DOI: 10.1597/04-155.1
Address: http://www.ncbi.nlm.nih.gov/pubmed/16526917
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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