title: Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
abstract: BACKGROUND
  Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.
  
  
  METHODS
  Thirty-three unrelated Turkish patients (12 with Apert syndrome, 14 with Crouzon syndrome, six with Pfeiffer syndrome, and one with Saethre-Chotzen syndrome) and 67 nonsyndromic craniosynostosis patients were screened for mutations in exons IIIa and IIIc of the FGFR2 gene by denaturing high-performance liquid chromatography and confirmed by direct sequencing.
  
  
  RESULTS
  We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis.
  
  
  CONCLUSIONS
  Our results indicate that the majority of Turkish patients with syndromic craniosynostosis have detectable genetic changes with an overall frequency of 72.7%. Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype-phenotype relationship and has a great value for diagnosis, prognosis, and genetic counseling.
authors.affiliation: Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Banu G
authors.initials: BG
authors.lastname: Nur
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Suray
authors.initials: S
authors.lastname: Pehlivanoğlu
authors.affiliation: Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Ercan
authors.initials: E
authors.lastname: Mıhçı
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Mualla
authors.initials: M
authors.lastname: Calışkan
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Durkadın
authors.initials: D
authors.lastname: Demir
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey. Electronic address: oalper@akdeniz.edu.tr.
authors.forename: Ozgül M
authors.initials: OM
authors.lastname: Alper
authors.affiliation: Department of Medical Genetics, Institute of Children's Health, Faculty of Medicine, Istanbul University, Çapa, İstanbul, Turkey.
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Güven
authors.initials: G
authors.lastname: Lüleci
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D055815:Young Adult
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Apert syndrome; Crouzon syndrome; DHPLC; Pfeiffer syndrome; craniosynostosis