A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
Open Access
- 1 July 2004
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (7) , e97
- https://doi.org/10.1136/jmg.2004.018895
Abstract
We encountered a large family of four generations where 11 members were affected with ASD, and where disease transmission was consistent with an autosomal dominant mode of inheritance. Here we report a novel mutation of GATA4 in this family.Keywords
This publication has 17 references indexed in Scilit:
- Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromesJournal of Medical Genetics, 2003
- GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Nature, 2003
- Combinatorial Expression of GATA4, Nkx2-5, and Serum Response Factor Directs Early Cardiac Gene ActivityPublished by Elsevier ,2002
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisNature Genetics, 2000
- Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathwaysJournal of Clinical Investigation, 1999
- Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5Science, 1998
- The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactorsThe EMBO Journal, 1997
- Identification and Cloning of the Human Homolog (JAG1) of the RatJagged1Gene from the Alagille Syndrome Critical Region at 20p12Genomics, 1997
- Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1Nature Genetics, 1997
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyNature Genetics, 1997