Ontology highlight
ABSTRACT:
SUBMITTER: Reamon-Buettner SM
PROVIDER: S-EPMC1735891 | biostudies-other | 2004 Sep
REPOSITORIES: biostudies-other
Reamon-Buettner S M SM Borlak J J
Journal of medical genetics 20040901 9
NKX2-5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2-5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2-5 in the diseased heart tissues of 68 patients with complex congenital heart disease, focussing particularly on atrial, ventricular, and atrioventricular septal defects. We identified 35 non-synonymous NKX2-5 mutatio ...[more]