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Herein, we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dub\u00e9 syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex\/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others. At times, pneumothorax is their herald manifestation. These syndromes have serious potential extrapulmonary complications (e.g., malignant renal tumors in Birt-Hogg-Dub\u00e9 syndrome), and surveillance and\/or treatment is available for most disorders; thus, establishing a diagnosis is critical. To facilitate this, we provide an algorithm to guide the clinician in discerning which cases of spontaneous pneumothorax may have a genetic or familial contribution, which cases warrant genetic testing, and which cases should prompt an evaluation by a geneticist.<\/jats:p>","DOI":"10.1164\/rccm.201807-1212ci","type":"journal-article","created":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T11:36:26Z","timestamp":1548416186000},"page":"1344-1357","source":"Crossref","is-referenced-by-count":72,"title":["The Genetics of Pneumothorax"],"prefix":"10.1093","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9528-252X","authenticated-orcid":false,"given":"Philip M.","family":"Boone","sequence":"first","affiliation":[{"name":"Harvard Genetics Training Program, Boston, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel M.","family":"Scott","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan J.","family":"Marciniak","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom"},{"name":"Division of Respiratory Medicine, Addenbrooke\u2019s Hospital, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth P.","family":"Henske","sequence":"additional","affiliation":[{"name":"Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin A.","family":"Raby","sequence":"additional","affiliation":[{"name":"Pulmonary Genetics Center, Division of Pulmonary and Critical Care Medicine, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts; and"},{"name":"Channing Division of Network Medicine, Department of Medicine, Brigham and Women\u2019s Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,6,1]]},"reference":[{"key":"2026030321290350100_bib1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1378\/chest.103.2.433","article-title":"Nonsmoking, non-alpha 1-antitrypsin deficiency-induced emphysema in nonsmokers with healed spontaneous pneumothorax, identified by computed tomography of the lungs","volume":"103","author":"Bense","year":"1993","journal-title":"Chest"},{"key":"2026030321290350100_bib2","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/0002-9610(64)90030-3","article-title":"Spontaneous pneumothorax: suggested etiology and comparison of treatment 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