{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:09:03Z","timestamp":1784714943919,"version":"3.55.0"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Haploinsufficiency of <jats:italic>SHOX<\/jats:italic> on the short arm pseudoautosomal region (PAR1) leads to Leri\u2013Weill dyschondrosteosis (LWD), and nullizygosity of <jats:italic>SHOX<\/jats:italic> results in Langer mesomelic dysplasia (LMD). Molecular defects of LWD\/LMD include various microdeletions in PAR1 that involve exons and\/or the putative upstream or downstream enhancer regions of <jats:italic>SHOX<\/jats:italic>, as well as several intragenic mutations. Here, we report on a Japanese male infant with mild manifestations of LMD and hitherto unreported microdeletions in PAR1. Clinical analysis revealed mesomelic short stature with various radiological findings indicative of LMD. Molecular analyses identified compound heterozygous deletions, that is, a maternally inherited \u223c46\u2009kb deletion involving the upstream region and exons 1\u20135 of <jats:italic>SHOX<\/jats:italic>, and a paternally inherited \u223c500\u2009kb deletion started from a position \u223c300\u2009kb downstream from <jats:italic>SHOX<\/jats:italic>. In silico analysis revealed that the downstream deletion did not affect the known putative enhancer regions of <jats:italic>SHOX<\/jats:italic>, although it encompassed several non\u2010coding elements which were well conserved among various species with <jats:italic>SHOX<\/jats:italic> orthologs. These results provide the possibility of the presence of a novel enhancer for <jats:italic>SHOX<\/jats:italic> in the genomic region \u223c300 to \u223c800\u2009kb downstream of the start codon. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36284","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:36:27Z","timestamp":1386275787000},"page":"505-510","source":"Crossref","is-referenced-by-count":21,"title":["Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Takayoshi","family":"Tsuchiya","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"},{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Shibata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kyoto University Hospital Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironao","family":"Numabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kyoto University Hospital Kyoto Japan"},{"name":"Graduate School of Humanities and Sciences Ochanomizu University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Jinno","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"},{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research 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