{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T20:50:27Z","timestamp":1768423827018,"version":"3.49.0"},"reference-count":27,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D &lt;i&gt;(PEPD)&lt;\/i&gt; gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions\/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population. We describe the first Mexican-American patient with PD, who presented with typical facial features, developmental delay, microcephaly, and xerosis. Chromosome microarray analysis (CMA) revealed a homozygous deletion in the region of 19q13.11, estimated to be between 124.79 and 195.72 kb in size, representing the largest &lt;i&gt;PEPD&lt;\/i&gt; gene deletion reported to date and the first discovered by CMA.<\/jats:p>","DOI":"10.1159\/000445397","type":"journal-article","created":{"date-parts":[[2016,4,13]],"date-time":"2016-04-13T21:01:24Z","timestamp":1460581284000},"page":"80-86","source":"Crossref","is-referenced-by-count":12,"title":["Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion"],"prefix":"10.1159","volume":"7","author":[{"given":"Jonathan P.","family":"Hintze","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelia","family":"Kirby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Torti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline R.","family":"Batanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,4,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1979.04010010034010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2006.02690.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2014.11.009"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70245-O"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/1546-0096-10-18"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_62"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0496-z"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30945"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0792-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(68)90016-8"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2006.02112.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050023"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1102-1"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/1756-185X.12254"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496038"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-3038.2002.00075.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.03.025"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0180-1"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043315"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s00726-008-0055-4"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200011)20:11<927::AID-PD943>3.0.CO;2-H"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(84)90363-1"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.070"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1136\/adc.76.5.441"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114708"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115115"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31134"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445397","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445397","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445397","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:57:14Z","timestamp":1745431034000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000445397"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":27,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,5,28]]},"published-print":{"date-parts":[[2016,5,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000445397","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}