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Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

Published online by Cambridge University Press:  13 August 2009

Haruka Hamanoue ,
Sri Endah Rahayuningsih ,
Yuya Hirahara ,
Junko Itoh ,
Utako Yokoyama ,
Takeshi Mizuguchi ,
Hirotomo Saitsu ,
Noriko Miyake ,
Fumiki Hirahara  and
Naomichi Matsumoto
Haruka Hamanoue
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Sri Endah Rahayuningsih
Affiliation:
Department of Pediatrics, Padjadjaran University Medical School, Hasan Sadikin General Hospital, Bandung, Indonesia
Yuya Hirahara
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Junko Itoh
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Utako Yokoyama
Affiliation:
Cardiovascular Research Institute, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Takeshi Mizuguchi
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Hirotomo Saitsu
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Noriko Miyake
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Fumiki Hirahara
Affiliation:
Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Naomichi Matsumoto*
Affiliation:
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
*
Correspondence to: Naomichi Matsumoto, M.D., Ph.D., Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan. Tel: +81-45-787-2604; Fax: +81-45-786-5219; E-mail: naomat@yokohama-cu.ac.jp
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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 defecst. 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.

Keywords

genetic inheritancenew mutationinteratrial communications
Type
Original Article
Information
Cardiology in the Young , Volume 19 , Issue 5 , October 2009 , pp. 482 - 485
Copyright
Copyright © Cambridge University Press 2009

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