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However, little is currently known about how these \nCAV1<\/jats:italic>\n<\/jats:styled-content> mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X<\/jats:styled-content> \nCAV1<\/jats:styled-content>\n<\/jats:italic> mutation predicted to generate a C\u2010terminally truncated mutant protein in a patient with both PAH<\/jats:styled-content> and CGL<\/jats:styled-content> using whole exome sequencing, and characterize the properties of \nCAV1<\/jats:italic>\n<\/jats:styled-content>, caveolae\u2010associated proteins and caveolae in skin fibroblasts isolated from the patient. We show that morphologically defined caveolae are present in patient fibroblasts and that they function in mechanoprotection. However, they exhibited several notable defects, including enhanced accessibility of the C\u2010terminus of wild\u2010type CAV1<\/jats:styled-content> in caveolae, reduced colocalization of cavin\u20101 with CAV1<\/jats:styled-content> and decreased stability of both 8S<\/jats:styled-content> and 70S<\/jats:styled-content> oligomeric CAV1<\/jats:styled-content> complexes that are necessary for caveolae formation. These results were verified independently in reconstituted CAV1<\/jats:styled-content>\n\u2212\/\u2212<\/jats:sup> mouse embryonic fibroblasts. These findings identify defects in caveolae that may serve as contributing factors to the development of PAH<\/jats:styled-content> and CGL<\/jats:styled-content> and broaden our knowledge of \nCAV1<\/jats:styled-content><\/jats:italic> mutations associated with human disease.<\/jats:p><\/jats:p>","DOI":"10.1111\/tra.12452","type":"journal-article","created":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T14:50:28Z","timestamp":1474901428000},"page":"1297-1312","source":"Crossref","is-referenced-by-count":58,"title":["Characterization of a caveolin\u20101 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy"],"prefix":"10.1111","volume":"17","author":[{"given":"Bing","family":"Han","sequence":"first","affiliation":[{"name":"Department of Molecular Physiology and Biophysics Vanderbilt School of Medicine Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney 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