The gene responsible for alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a developmental disorder of the lungs that usually kills the infants born with it within the first month of life has been identified. Research from a consortium of researchers led by Baylor College of Medicine, Houston, found that deletions or mutations in the FOXF1 transcription factor gene are to blame for the rare disease.
"There is no question that these data are convincing," said first author Pawel Stankiewicz, MD, PhD, from Baylor, in a news announcement from the school. "This is the gene responsible for 30 to 40% of alveolar capillary dysplasia with misalignment of pulmonary veins cases. It is involved in angiogenesis (formation of new blood vessel) and lung development."
Stankiewicz said that finding the gene might make it easier to diagnose the problem in children born with the disorder and to counsel families about the risk of the disease in future children.
The researchers now seek to test blood and tissue from infants with the disorder and their parents to find the cause and develop a test for the disease.
A report on the findings appears in the American Journal of Human Genetics.