How to cite this article: Yu S, Shao L, Kilbride H, Zwick DL. 2010. Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet Part A 152A:1257–1262.
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease†
Article first published online: 13 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1257–1262, May 2010
How to Cite
Yu, S., Shao, L., Kilbride, H. and Zwick, D. L. (2010), Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am. J. Med. Genet., 152A: 1257–1262. doi: 10.1002/ajmg.a.33378
- Issue published online: 22 APR 2010
- Article first published online: 13 APR 2010
- Manuscript Accepted: 29 JAN 2010
- Manuscript Received: 14 JUL 2009
- monosomy 16q24;
Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1-q24.2 by microarray-based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (FOXF1 and FOXC2) involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro-imbalances as pathogenic causes in neonates with unexplained congenital anomalies. © 2010 Wiley-Liss, Inc.