[A study of genetic heterogeneity in Pfeiffer syndrome].
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.
Ma
H
H
The Second Hospital, China Medical University, Shenyang 110003 P. R. China.
Wang
Y
Y
Mi
Z
Z
Hao
M
M
Yang
L
L
Zhao
S
S
Ji
S
S
Jing
Z
Z
D000168:Acrocephalosyndactylia / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male