{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:06Z","timestamp":1790516586714,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,9,6]],"date-time":"2013-09-06T00:00:00Z","timestamp":1378425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Geleophysic dysplasia (GD) is an autosomal recessive disorder characterized by short stature, brachydactyly, stiff joints, thick skin, and cardiac valvular abnormalities that are often responsible for early death. Mutations in <jats:italic>ADAMTSL2<\/jats:italic> and <jats:italic>FBN1<\/jats:italic> genes have been shown to cause GD due to the dysregulation of transforming growth factor\u2010\u03b2 signaling pathways. Small numbers of mutations in <jats:italic>ADAMTSL2<\/jats:italic> have been reported so far in patients with GD type 1 (GD1).<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>In this study, we clinically evaluated two children from two consanguineous Arab families living in the United Arab Emirates with GD1. In addition we have sequenced all the coding exons of <jats:italic>ADAMTSL2<\/jats:italic> gene using Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>The two patients exhibited most of the typical features of this rare bone dysplasia. Molecular analysis of the <jats:italic>ADAMTSL2<\/jats:italic> gene revealed two novel homozygous missense mutations (c.938T&gt;C, p.M313T and c.499G&gt;A, p.D167N). The mutations segregated well in the studied families with the parents being heterozygous. In addition, bioinformatics analyses showed that these mutations are affecting conserved amino acids residues and thus strongly support their pathogenicity.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>We describe the clinical phenotypes of two patients with GD1 that are caused by two novel homozygous missense mutations in the <jats:italic>ADAMTSL2<\/jats:italic> gene. <jats:italic>Birth Defects Research (Part A), 97:764\u2013769, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23170","type":"journal-article","created":{"date-parts":[[2013,9,6]],"date-time":"2013-09-06T13:44:13Z","timestamp":1378475053000},"page":"764-769","source":"Crossref","is-referenced-by-count":13,"title":["Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates"],"prefix":"10.1002","volume":"97","author":[{"given":"Salma","family":"Ben\u2010Salem","sequence":"first","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences  United Arab Emirates University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Hertecant","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M.","family":"Al\u2010Shamsi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tawam Hospital Al\u2010Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassam R.","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pathology College of Medicine and Heath Sciences  United Arab Emirates University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh","family":"Al\u2010Gazali","sequence":"additional","affiliation":[{"name":"Department of Paediatrics College of Medicine and Heath Sciences  United Arab Emirates University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21232"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0409-0"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq103"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087544"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2004.01.014"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq399"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012817"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.849004"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190309"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2007.03.003"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr361"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31337"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280522"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<85::AID-AJMG18>3.0.CO;2-Q"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002425"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190310"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)92073-3"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2262"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<82::AID-AJMG16>3.0.CO;2-O"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350202"}],"container-title":["Birth 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