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FOXF1 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FOXF1 gene

The FOXF1 gene provides instructions for a transcription factor that is essential for the development of the lungs and the gastrointestinal tract.

Normal Function

The FOXF1 gene provides instructions for making the forkhead box F1 (FOXF1) protein. This protein acts as a transcription factor, meaning it binds to specific regions of DNA to control the activity of many other genes. The FOXF1 protein is particularly important in the development of pulmonary mesenchyme, the embryonic tissue from which the blood vessels of the lung arise. It is also involved in the development of the gastrointestinal tract.

Health Conditions Related to Genetic Changes

Alveolar capillary dysplasia with misalignment of pulmonary veins

At least four mutations in the FOXF1 gene have been identified in infants with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). These mutations include changes to single amino acids or the insertion/deletion of genetic material within the gene.

These mutations result in an inactive protein that cannot regulate development, leading to the abnormal formation of pulmonary blood vessels. Infants affected by FOXF1 gene mutations typically present with the following:

  • Abnormal formation of pulmonary blood vessels (a hallmark of ACD/MPV).
  • Gastrointestinal abnormalities.

Frequently Asked Questions

Infants with ACD/MPV typically present with severe, persistent respiratory distress shortly after birth, often requiring mechanical ventilation. Unlike other lung conditions, these infants do not respond well to standard surfactant therapy or oxygen support. The hallmark sign is the inability to maintain adequate oxygen levels despite aggressive respiratory care, which prompts further diagnostic investigation.
Most cases of ACD/MPV are caused by new (de novo) mutations in the FOXF1 gene, meaning they are not inherited from parents and are not typically passed down to future generations. However, prenatal diagnosis is possible if a mutation is identified in the family. Ultrasound may show abnormal lung development or enlarged pulmonary arteries, but definitive diagnosis often requires genetic testing of amniotic fluid or chorionic villi.
The FOXF1 protein is essential for the development of the gastrointestinal tract, so mutations can lead to various GI abnormalities. These may include intestinal atresia (blockage of the intestine), malrotation (twisting of the intestines), or other structural defects. These issues often require surgical intervention and complicate the overall management of the infant's health alongside their respiratory distress.
The prognosis for ACD/MPV is generally poor, as it is a life-threatening condition that affects the fundamental structure of the lung's blood vessels. Most affected infants do not survive beyond the first few weeks or months of life. Care is primarily palliative, focusing on comfort and managing symptoms, although some infants may survive longer with intensive medical support.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.