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Updated: Sep 3, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the

Esra Yıldız Bölükbaşı1, Justyna A Karolak2, Przemyslaw Szafranski1

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.

European Journal of Human Genetics : EJHG
|July 28, 2022
PubMed
Summary

Genetic variants in the FOXF1 gene and its enhancer region are linked to Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV). Non-coding variants in the enhancer can rescue the lethal ACDMPV phenotype, supporting a gene dosage model.

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