{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:10:01Z","timestamp":1756314601061,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"abstract":"<jats:p>Hypotonia\u2013cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. 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. Molecular analysis of the <jats:italic>SLC3A1\/PREPL<\/jats:italic> locus was performed in the patients using quantitative polymerase chain reaction (PCR) methods. 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. 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.<\/jats:p>","DOI":"10.1136\/bcr.08.2008.0719","type":"journal-article","created":{"date-parts":[[2009,2,2]],"date-time":"2009-02-02T06:49:47Z","timestamp":1233557387000},"page":"bcr0820080719","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Deletion of <i>C2orf34<\/i>, <i>PREPL<\/i> and <i>SLC3A1<\/i> causes atypical hypotonia\u2013cystinuria syndrome"],"prefix":"10.1136","volume":"2009","author":[{"given":"B","family":"Chabrol","sequence":"first","affiliation":[{"name":"Reference Center for inborn metabolic disorders, CHU de la Timone, Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Martens","sequence":"additional","affiliation":[{"name":"Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium"},{"name":"Laboratory for Molecular Diagnosis, 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