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She had been diagnosed with possible Hallerman\u2013Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in <jats:italic>ZMPSTE24<\/jats:italic> which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic <jats:italic>ZMPSTE24<\/jats:italic> variants cause accumulation of abnormal farnesylated forms of prelamin A. This, in turn, causes a spectrum of disease severity which is based on enzyme activity. The current patient has an intermediate form, which is a genocopy of severe Progeria.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38493","type":"journal-article","created":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T13:56:37Z","timestamp":1516197397000},"page":"1175-1179","source":"Crossref","is-referenced-by-count":13,"title":["Phenotypic heterogeneity of ZMPSTE24 deficiency"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3522-2135","authenticated-orcid":false,"given":"Thomas A.","family":"Cassini","sequence":"first","affiliation":[{"name":"Department of Medicine Vanderbilt University Medical Center Nashville Tennessee"},{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy K.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna G.","family":"Bican","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy D.","family":"Cogan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vickie L.","family":"Hannig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Newman","sequence":"additional","affiliation":[{"name":"Department of Medicine Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rizwan","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"John A.","family":"Phillips","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Undiagnosed Diseases Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg213"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2310\/6650.2006.05068"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01580.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33664"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds233"},{"issue":"2014","key":"e_1_2_6_7_1","first-page":"508231","article-title":"Mandibuloacral dysplasia caused by LMNA mutations and uniparental disomy","volume":"2014","author":"Bai S.","year":"2014","journal-title":"Case Reports in Genetics"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.256"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2010.06.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20315"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2016.06.007"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1992.01680120104012"},{"key":"e_1_2_6_13_1","first-page":"150","article-title":"Restrictive dermopathy. 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