title: [A study of genetic heterogeneity in Pfeiffer syndrome].
abstract: OBJECTIVE
  To understand the molecular pathology of Pfeiffer syndrome.
  
  
  METHODS
  DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP-sequence analyses and PCR-restriction enzyme digestion.
  
  
  RESULTS
  The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3' acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene (Pro252Arg) was found in a family.
  
  
  CONCLUSIONS
  These findings reveal the genetic heterogeneity of Pfeiffer syndrome and can help one understand the molecular mechanism of the disease.
authors.affiliation: The Second Hospital, China Medical University, Shenyang 110003 P. R. China.
authors.forename: H
authors.initials: H
authors.lastname: Ma
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: Z
authors.initials: Z
authors.lastname: Mi
authors.forename: M
authors.initials: M
authors.lastname: Hao
authors.forename: L
authors.initials: L
authors.lastname: Yang
authors.forename: S
authors.initials: S
authors.lastname: Zhao
authors.forename: S
authors.initials: S
authors.lastname: Ji
authors.forename: Z
authors.initials: Z
authors.lastname: Jing
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male