{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:17Z","timestamp":1790807177092,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,9,4]]},"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We enrolled multiplex consanguineous families and simplex cases (also consanguineous) in which mutations in\n                      <jats:italic>COL1A1<\/jats:italic>\n                      and\n                      <jats:italic>COL1A2<\/jats:italic>\n                      had been excluded. We used autozygome guided mutation analysis of AR OI (AR OI) genes followed by exome sequencing when such analysis failed to identify the causative mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two simplex and 11 multiplex families were enrolled, encompassing 27 cases. In three multiplex families, autozygosity and linkage analysis revealed a novel recessive OI locus on chromosome 9q31.1-31.3, and a novel truncating deletion of exon 4 of\n                      <jats:italic>TMEM38B<\/jats:italic>\n                      was identified within that interval. In addition, gonadal or gonadal\/somatic mosaic mutations in\n                      <jats:italic>COL1A1<\/jats:italic>\n                      or\n                      <jats:italic>COL1A2<\/jats:italic>\n                      and homozygous mutations in recently described AR OI genes were identified in all remaining families.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>TMEM38B<\/jats:italic>\n                      is a novel candidate gene for AR OI. Future studies are needed to explore fully the contribution of this gene to AR OI in other populations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101142","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T19:39:25Z","timestamp":1349897965000},"page":"630-635","source":"Crossref","is-referenced-by-count":132,"title":["Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by\n                    <i>TMEM38B<\/i>\n                    mutation"],"prefix":"10.1136","volume":"49","author":[{"given":"Ranad","family":"Shaheen","sequence":"first","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anas M","family":"Alazami","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muneera J","family":"Alshammari","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"},{"name":"Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Alhashmi","sequence":"additional","affiliation":[{"name":"Department of Child Health, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noon","family":"Mousa","sequence":"additional","affiliation":[{"name":"Department of Child Health, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Alsinani","sequence":"additional","affiliation":[{"name":"Department of Child Health, Royal Hospital, Muscat, Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinu","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatema","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al-Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zayed S","family":"Alzayed","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"},{"name":"Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi 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