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Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease
Author(s) -
Yu Shihui,
Shao Lei,
Kilbride Howard,
Zwick David L.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33378
Subject(s) - bronchopulmonary dysplasia , disease , comparative genomic hybridization , medicine , dysplasia , phenotype , microarray , heart disease , gene , genetics , pathology , chromosome , pediatrics , biology , pregnancy , gestational age , gene expression
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.