title: Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.
abstract: 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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Haruka
authors.initials: H
authors.lastname: Hamanoue
authors.forename: Sri Endah
authors.initials: SE
authors.lastname: Rahayuningsih
authors.forename: Yuya
authors.initials: Y
authors.lastname: Hirahara
authors.forename: Junko
authors.initials: J
authors.lastname: Itoh
authors.forename: Utako
authors.initials: U
authors.lastname: Yokoyama
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Fumiki
authors.initials: F
authors.lastname: Hirahara
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: 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*
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human