title: Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
abstract: Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in exon IIIa of FGFR2 in Mexican AS patients and the relationships with clinical features. Exon IIIa of FGFR2 from 6 AS patients was amplified by polymerase chain reaction. Mutations in exon IIIa of the FGFR2 gene were identified by digestion with the restriction endonuclease Bstx1 and polyacrylamide gel electrophoresis. PCR fragments were cloned into the PCR 2.1 vector, and both DNA strands were sequenced using the T7 promoter and M13 universal cloning region oligonucleotides. Sequence alignment was performed using the MEGA software version 5. The patients' major clinical features included craniosynostosis, hypertelorism, proptosis, otitis media, midfacial hypoplasia, rhizomelic shortening, and hyperhidrosis. Mutation S252W was present in 4 patients, while the other 2 patients had P253R. In conclusion, either S252W or P253R mutations were present independently in AS patients; however, the 2 mutations were not found together. None of the clinical features were associated with any of the mutations, suggesting that other mutations may be involved in the development of this syndrome.
authors: División de Genética, Hospital General Doctor Manuel Gea González, D.F., México.
authors: A
authors: A
authors: Ibarra-Arce
authors: División de Genética, Hospital General Doctor Manuel Gea González, D.F., México.
authors: G
authors: G
authors: Ortiz de Zárate-Alarcón
authors: División de Genética, Hospital General Doctor Manuel Gea González, D.F., México.
authors: L G
authors: LG
authors: Flores-Peña
authors: Departamento de Ecología de Agentes Patógenos, Hospital General Doctor Manuel Gea González, D.F., México.
authors: F
authors: F
authors: Martínez-Hernández
authors: Departamento de Biología Molecular e Histocompatibilidad, Hospital General Doctor Manuel Gea González, D.F., México.
authors: M
authors: M
authors: Romero-Valdovinos
authors: Departamento de Biología Molecular e Histocompatibilidad, Hospital General Doctor Manuel Gea González, D.F., México aolivod@yahoo.com.
authors: A
authors: A
authors: Olivo-Díaz
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008800:Mexico; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D004247:DNA; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; C047564:CCANNNNNNTGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific