Identification of FOXF1 Mutations that affect Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV)

This study focuses on identifying FOXF1 mutations on patients with Alveolar Capillary Dysplasia. ACD/MPV is a rare and lethal genetic disorder that affects the development of capillaries and development of lungs at large. A large number of patients (85%) have anomalies of gastrointestinal, cardiovascular and genital urinary system among which malrotation of large intestine, coarctation of aorta, imperforate anus are more common. Despite aggressive treatment, affected newborn babies usually die within the first few weeks of their life as a consequence of respiratory failure. The age range of patients was from 1 day old to 10 months. After an autopsy confirmed the diagnosis of ACD/MPV, DNA was isolated either from frozen tissue or paraffin-embedded tissue. DNA was amplified by Polymerase Chain Reaction using appropriate primers to cover the coding regions of FOXF1. The amplicons were visualized on agarose gel by electrophoresis, purified using sephadex columns, and sequenced using fluorescent dye scanning in an ABI3130XL.  Mutations were detected in patients DNA samples to confirm the involvement of FOXF1 in ACD/MPV. The DATA confirms the involvement of FOXF1 in ACD/MPV.