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Ten percent of ACDMPV cases are familial and caused by single nucleotide or copy\u2010number variants in <jats:italic>FOXF1<\/jats:italic> or the <jats:italic>FOXF1<\/jats:italic> enhancer in an autosomal dominant manner. Here, we report a familial case of paternal <jats:italic>FOXF1<\/jats:italic> upstream enhancer deletion, detected as somatic mosaicism in his blood specimen. A 37\u2010 and 35\u2010year\u2010old couple had four children. The first, third, and fourth children suffered from ACDMPV that led to neonatal death. In this case, the first child was misdiagnosed with meconium aspiration syndrome, and the diagnosis of ACDMPV was first made after the autopsy of the third child. The option of preimplantation or prenatal genetic testing did not exist during the pregnancy of the fourth child, as the complex genetic basis became clear only after the death of the fourth child.<\/jats:p>","DOI":"10.1002\/ajmg.a.64056","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T08:25:51Z","timestamp":1742718351000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal <scp><i>FOXF1<\/i><\/scp> Upstream Enhancer Deletion: A Case Report"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2584-183X","authenticated-orcid":false,"given":"Hidenori","family":"Kawasaki","sequence":"first","affiliation":[{"name":"Department of Genomic Medicine Kyoto University School of Public Health  Kyoto Japan"},{"name":"Clinical Genetics Unit Kyoto University Hospital  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