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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\u2010number variant deletions involving <jats:italic>FOXF1<\/jats:italic> and\/or its upstream lung\u2010specific 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 <jats:italic>FOXF1<\/jats:italic>. 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\u2009kb CpG island in <jats:italic>FOXF1<\/jats:italic> exon 1 is a novel mutation hotspot causative for ACDMPV.<\/jats:p>","DOI":"10.1002\/ajmg.a.61338","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T13:10:33Z","timestamp":1566479433000},"page":"2272-2276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A recurrent 8 bp frameshifting indel in <i>FOXF1<\/i> defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins"],"prefix":"10.1002","volume":"179","author":[{"given":"Justyna A.","family":"Karolak","sequence":"first","affiliation":[{"name":"Department of Molecular &amp; Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"Department of Genetics and Pharmaceutical Microbiology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albino","family":"Bacolla","sequence":"additional","affiliation":[{"name":"Department of Cancer Biology The University of Texas M.D. Anderson Cancer Center  Houston Texas"},{"name":"Department of Molecular and Cellular Oncology The University of Texas M.D. Anderson Cancer Center  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular &amp; Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick E.","family":"Lantz","sequence":"additional","affiliation":[{"name":"Department of Pathology Wake Forest School of Medicine, Baptist Medical Center  Winston\u2010Salem North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Petty","sequence":"additional","affiliation":[{"name":"Department of General Surgery Wake Forest School of Medicine, Baptist Medical Center  Winston\u2010Salem North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Trapane","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics University of Florida College of Medicine\u2010Jacksonville  Jacksonville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Panzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Stead Family Children's Hospital  Iowa City Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balagangadhar R.","family":"Totapally","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Florida International University, Nicklaus Children's Hospital  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyv","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Molecular &amp; 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