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We conducted whole exome sequencing of the parents and probands from six pedigrees with neonatal onset of generalized loss of subcutaneous fat with additional distinctive phenotypic features and report de novo heterozygous null mutations, c.424C&gt;T (p.Q142*) and c.479_480delTT (p.F160*), in <jats:italic>CAV1<\/jats:italic> in a 7\u2010year\u2010old male and a 3\u2010year\u2010old female of European origin, respectively. Both the patients had generalized fat loss, thin mottled skin and progeroid features at birth. The male patient had cataracts requiring extraction at age 30 months and the female patient had pulmonary arterial hypertension. Dermal fibroblasts of the female patient revealed negligible <jats:italic>CAV1<\/jats:italic> immunofluorescence staining compared to control but there were no differences in the number and morphology of caveolae upon electron microscopy examination. Based upon the similarities in the clinical features of these two patients, previous reports of <jats:italic>CAV1<\/jats:italic> mutations in patients with lipodystrophies and pulmonary hypertension, and similar features seen in <jats:italic>CAV1<\/jats:italic> null mice, we conclude that these variants are the most likely cause of one subtype of neonatal onset generalized lipodystrophy syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37115","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:49:00Z","timestamp":1429674540000},"page":"1796-1806","source":"Crossref","is-referenced-by-count":75,"title":["Whole exome sequencing identifies de novo heterozygous <i>CAV1<\/i> mutations associated with a novel neonatal onset lipodystrophy syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Abhimanyu","family":"Garg","sequence":"first","affiliation":[{"name":"Department of Internal Medicine and the Center for Human Nutrition Division of Nutrition and Metabolic Diseases UT Southwestern Medical Center Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kircher","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"del Campo","sequence":"additional","affiliation":[{"name":"Division of Clinical and Molecular Genetics Hospital Vall d'Hebron Universitat Pompeu Fabra CIBERER Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Stephen","family":"Amato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Genetics and Metabolism University of Kentucky Lexington Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anil K.","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and the Center for Human Nutrition Division of Nutrition and Metabolic Diseases UT Southwestern Medical Center Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng880"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.031"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.961888"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.1.43"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63920-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511X-7-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00006.2003"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.12.6838"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062688"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.005"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1159"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-383834-6.00095-1"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1328"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-119"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2005.06.001"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq330"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2122"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408523111"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1046647"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110970200"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105408200"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200114611"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.27.16395"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2005.08.008"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.019"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.190165"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2670"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420627"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00458.2004"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.172360799"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:01:55Z","timestamp":1696590115000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":32,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/ajmg.a.37115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37115","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}