{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:56:58Z","timestamp":1789750618909,"version":"4.0.1"},"reference-count":20,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Hypotonia\u2013cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. The deletions differ in size and the number of genes involved. In HCS patients, only <jats:italic>SLC3A1<\/jats:italic> and <jats:italic>PREPL<\/jats:italic> are disrupted. In the 2p21 deletion syndrome, two additional genes (<jats:italic>C2orf34<\/jats:italic> and <jats:italic>PPM1B<\/jats:italic>) are lost.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective:<\/jats:title>\n                  <jats:p>Clinical and molecular analysis of two siblings who presented with an atypical HCS phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>Molecular analysis of the <jats:italic>SLC3A1\/PREPL<\/jats:italic> locus was performed in the patients using quantitative polymerase chain reaction (PCR) methods.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>HCS in both siblings was confirmed with the deletion screen of the <jats:italic>SLC3A1\/PREPL<\/jats:italic> locus. Fine mapping of the breakpoint revealed a deletion of 77.4 kb, including three genes: <jats:italic>SLC3A1<\/jats:italic>, <jats:italic>PREPL<\/jats:italic> and <jats:italic>C2orf34<\/jats:italic>. Features not present in classical HCS were a mild\/moderate mental retardation and a respiratory chain complex IV deficiency documented in patient 2.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>We report the first patients with a deletion of <jats:italic>SLC3A1<\/jats:italic>, <jats:italic>PREPL<\/jats:italic> and <jats:italic>C2orf34<\/jats:italic>. They present with a phenotype intermediate between HCS and 2p21 deletion syndrome. These patients facilitate the elucidation of the contribution of each gene to the phenotype in the different 2p21 deletion syndromes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.055475","type":"journal-article","created":{"date-parts":[[2008,1,30]],"date-time":"2008-01-30T20:39:47Z","timestamp":1201725587000},"page":"314-318","source":"Crossref","is-referenced-by-count":39,"title":["Deletion of <i>C2orf34<\/i>, <i>PREPL<\/i> and <i>SLC3A1<\/i> causes atypical hypotonia\u2013cystinuria syndrome"],"prefix":"10.1136","volume":"45","author":[{"given":"B","family":"Chabrol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Martens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Meulemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Cano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Jaeken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Matthijs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J W M","family":"Creemers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,1,30]]},"reference":[{"key":"2025100510475932000_45.5.314.1","doi-asserted-by":"publisher","DOI":"10.1086\/498852"},{"key":"2025100510475932000_45.5.314.2","doi-asserted-by":"publisher","DOI":"10.1086\/323624"},{"key":"2025100510475932000_45.5.314.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201894"},{"key":"2025100510475932000_45.5.314.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.04.001"},{"key":"2025100510475932000_45.5.314.5","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2006.111"},{"key":"2025100510475932000_45.5.314.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022244"},{"key":"2025100510475932000_45.5.314.7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201881"},{"key":"2025100510475932000_45.5.314.8","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"2025100510475932000_45.5.314.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-003-1189-y"},{"key":"2025100510475932000_45.5.314.10","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050237"},{"key":"2025100510475932000_45.5.314.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-005-5262-5"},{"key":"2025100510475932000_45.5.314.12","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.4.1370-1381.2000"},{"key":"2025100510475932000_45.5.314.13","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1203\/00006450-199409000-00023","article-title":"Creatine deficiency in the brain: a new, treatable inborn error of metabolism.","volume":"36","author":"Stockler","year":"1994","journal-title":"Pediatr Res"},{"key":"2025100510475932000_45.5.314.14","doi-asserted-by":"publisher","DOI":"10.1086\/505693"},{"key":"2025100510475932000_45.5.314.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028464"},{"key":"2025100510475932000_45.5.314.16","doi-asserted-by":"publisher","DOI":"10.1086\/422507"},{"key":"2025100510475932000_45.5.314.17","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1139\/o06-201","article-title":"Defects in cytochrome oxidase assembly in humans: lessons from yeast.","volume":"84","author":"Zee","year":"2006","journal-title":"Biochem Cell Biol"},{"key":"2025100510475932000_45.5.314.18","doi-asserted-by":"publisher","DOI":"10.1038\/3804"},{"key":"2025100510475932000_45.5.314.19","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.242716699"},{"key":"2025100510475932000_45.5.314.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2007.04.001"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.055475","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:48:07Z","timestamp":1759686487000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.055475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,30]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2008,4,28]]},"published-print":{"date-parts":[[2008,5]]}},"alternative-id":["10.1136\/jmg.2007.055475"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.055475","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,30]]}}}