Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.
We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2.5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of GATA4 in those with atrial septal defects. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.
Hamanoue
Haruka
H
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Rahayuningsih
Sri Endah
SE
Hirahara
Yuya
Y
Itoh
Junko
J
Yokoyama
Utako
U
Mizuguchi
Takeshi
T
Saitsu
Hirotomo
H
Miyake
Noriko
N
Hirahara
Fumiki
F
Matsumoto
Naomichi
N
D002675:Child, Preschool; D050991:GATA4 Transcription Factor / Q000235:genetics*; D005820:Genetic Testing; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013771:Tetralogy of Fallot / Q000235:genetics*
D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human