Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

What is it about?

Mutations in the transcription factor FOXF1 are associated with a fatal disease of abnormal lung development called alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV). Deletions of DNA in a region upstream of the FOXF1 gene have also been associated with ACDMPV but it is unknown how these deletions contribute to abnormal lung development. Here we present an ACDMPV patient with a 340kb deletion located 250Kb upstream of the FOXF1 gene. Our data suggests that the deletion disrupts a regulatory element important for directing expression of FOXF1in the developing lung.

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