Mutations of connexin43 in fetuses with congenital heart malformations.
BACKGROUND
Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.


METHODS
Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls.


RESULTS
Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.


CONCLUSIONS
Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.
Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Ping
P
Chen
Li-jian
LJ
Xie
Guo-ying
GY
Huang
Xiao-qing
XQ
Zhao
Cai
C
Chang
D018031:Connexin 43 / Q000235:genetics*; D005333:Fetus / Q000378:metabolism*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D018031:Connexin 43