{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:09:27Z","timestamp":1790611767447,"version":"4.1.0"},"reference-count":65,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,18]],"date-time":"2017-11-18T00:00:00Z","timestamp":1510963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007229","name":"Bijzonder Onderzoeksfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007229","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004385","name":"Universiteit Gent","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (<jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed a cohort of 77 diagnosed <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients from 49 unrelated Palestinian families. Next\u2010generation sequencing technology was used to screen a panel of known <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 41 probands, we identified 28 different disease\u2010causing variants of 9 different known <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> genes. Eleven of the variants are novel. Ten of the 28 variants are located in <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>1A1<\/jats:italic>, five in <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>1A2<\/jats:italic>, three in <jats:italic><jats:styled-content style=\"fixed-case\">BMP<\/jats:styled-content>1<\/jats:italic>, three in <jats:italic><jats:styled-content style=\"fixed-case\">FKBP<\/jats:styled-content>10<\/jats:italic>, two in <jats:italic><jats:styled-content style=\"fixed-case\">TMEM<\/jats:styled-content>38B<\/jats:italic>, two in <jats:italic>P3H1<\/jats:italic>, and one each in <jats:italic><jats:styled-content style=\"fixed-case\">CRTAP<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">SERPINF<\/jats:styled-content>1<\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">SERPINH<\/jats:styled-content>1<\/jats:italic>. The absence of disease\u2010causing variants in the remaining eight probands suggests further genetic heterogeneity in <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>. In general, most <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients (90%) harbor mainly variants in type I collagen resulting in an autosomal dominant inheritance pattern. However, in our cohort almost 61% (25\/41) were affected with autosomal recessive <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>. Moreover, we document a 21\u2010kb genomic deletion in the <jats:italic><jats:styled-content style=\"fixed-case\">TMEM<\/jats:styled-content>38B<\/jats:italic> gene identified in 29% (12\/41) of the tested probands, making it the most frequent <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>\u2010causing variant in the Palestinian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first genetic screening of an <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> cohort from the Palestinian population. Our data are important for genetic counseling of <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients and families in highly consanguineous populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.331","type":"journal-article","created":{"date-parts":[[2017,11,18]],"date-time":"2017-11-18T05:08:59Z","timestamp":1510981739000},"page":"15-26","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Genetic analysis of osteogenesis imperfecta in the <scp>P<\/scp>alestinian population: molecular screening of 49 affected families"],"prefix":"10.1002","volume":"6","author":[{"given":"Osama","family":"Essawi","sequence":"first","affiliation":[{"name":"Department Master Program in Clinical Laboratory Science Birzeit University Birzeit Palestine"},{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Fannana","sequence":"additional","affiliation":[{"name":"Dr. Al Rantisi Specialized Children Hospital Gaza Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Darwish","sequence":"additional","affiliation":[{"name":"Rafidia Surgical Hospital Nablus Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Farraj","sequence":"additional","affiliation":[{"name":"Department Master Program in Clinical Laboratory Science Birzeit University Birzeit Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy","family":"Willaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamer","family":"Essawi","sequence":"additional","affiliation":[{"name":"Department Master Program in Clinical Laboratory Science Birzeit University Birzeit Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7119-586X","authenticated-orcid":false,"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.022"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.026"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932008002940"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20799"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12434"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.015"},{"key":"e_1_2_7_8_1","first-page":"95","article-title":"COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta","volume":"44","author":"Benusiene E.","year":"2003","journal-title":"J. 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