{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:39:40Z","timestamp":1780465180114,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T00:00:00Z","timestamp":1280793600000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations or deletions in the <jats:italic>SHOX<\/jats:italic> gene cause Leri\u2013Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enhancer deletions was identified 30\u2013250\u2009kb downstream of <jats:italic>SHOX<\/jats:italic>. We identified a female patient with marked short stature, mosaic for monosomy X in 31% of her lymphocytes, and findings consistent with LWD. Additional molecular studies demonstrated segregation of 17 polymorphic markers flanking and including the <jats:italic>SHOX<\/jats:italic> locus, spanning 328\u2009kb of pseudoautosomal region 1 (PAR1) region. A deletion up to 10\u2009kb residing 197\u2009kb downstream of <jats:italic>SHOX<\/jats:italic> gene was detected, which was germinally transmitted from her clinically unaffected father. This was associated with post\u2010zygotic mosaic loss of the normal maternal X\u2010chromosome, evidenced by fluorescent fragment analysis. Since most patients with LMD with deletions downstream of <jats:italic>SHOX<\/jats:italic> gene also have <jats:italic>SHOX<\/jats:italic> mutations in <jats:italic>trans<\/jats:italic>, it may suggest these deletions are associated with a milder phenotype. Further studies are required to elucidate the role of the former region in disease etiology. Mutations should be sought in clinically non\u2010affected family members because of the variable expressivity in hemizygous carriers, and cytogenetic evaluation should be considered to detect possible X\u2010chromosome rearrangements underlying the haploinsufficiency for the PAR1 when deletion is detected by molecular analysis. Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in <jats:italic>SHOX<\/jats:italic> and the downstream of <jats:italic>SHOX<\/jats:italic> gene should be considered. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33563","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T22:05:06Z","timestamp":1280873106000},"page":"2230-2235","source":"Crossref","is-referenced-by-count":4,"title":["Mosaic compound heterozygosity of SHOX resulting in Leri\u2013Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks"],"prefix":"10.1002","volume":"152A","author":[{"given":"Orit","family":"Reish","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheona","family":"Altarescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Chapman\u2010Shimshoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ephrat","family":"Levy\u2010Lahad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Renbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Mashevich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00875.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31676"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067785"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0510544103"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30852"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/499254"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040998"},{"key":"e_1_2_6_11_1","first-page":"510","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"2006"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.95.1.178"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.11174"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307006200"},{"key":"e_1_2_6_15_1","first-page":"725","article-title":"Linear growth of long bones of extremities from infancy through adolescence; Continuing studies","volume":"89","author":"Maresh MM","year":"1955","journal-title":"AMA Am J Dis Child"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-032230"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl470"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30095"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33563","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33563","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:00:15Z","timestamp":1697608815000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,3]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33563"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33563","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,3]]}}}