• Justyna A Karolak, Albino Bacolla, Qian Liu, Patrick E Lantz, John Petty, Pamela Trapane, Karin Panzer, Balagangadhar R Totapally, Zhiyv Niu, Rui Xiao, Nina G Xie, Lucia R Wu, Przemyslaw Szafranski, David Y Zhang, and Paweł Stankiewicz.
• Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
• Am. J. Med. Genet. A. 2019 Nov 1; 179 (11): 2272-2276.

AbstractAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first month of life. Heterozygous point mutations or copy-number variant deletions involving FOXF1 and/or its upstream lung-specific enhancer on 16q24.1 have been identified in the vast majority of ACDMPV patients. We have previously described two unrelated families with a de novo pathogenic frameshift variant c.691_698del (p.Ala231Argfs*61) in the exon 1 of FOXF1. Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.© 2019 Wiley Periodicals, Inc.

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