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Mapping of this deletion using fluorescence in situ hybridization revealed three deleted genes\u2014<jats:italic>CDH19<\/jats:italic>, <jats:italic>DSEL<\/jats:italic>, and <jats:italic>TXNDC10<\/jats:italic>, and one gene that contained the deletion breakpoint, <jats:italic>CCDC102B<\/jats:italic>. We selected <jats:italic>DSEL<\/jats:italic> for further study in 125 patients with diaphragmatic hernias, as it is involved in the synthesis of decorin, a protein that is required for normal collagen formation and that is upregulated during myogenesis. We found p.Met14Ile in an unrelated patient with a late\u2010presenting, anterior diaphragmatic hernia. In the murine diaphragm, <jats:italic>Dsel<\/jats:italic> was only weakly expressed at the time of diaphragm closure and its expression in C2C12 myoblast cells did not change significantly during myoblast differentiation, thus reducing the likelihood that the gene is involved in myogenesis of the diaphragm. Although it is possible that the 18q22.1 deletion and haploinsufficiency for <jats:italic>DSEL<\/jats:italic> contributed to the diaphragmatic defect in the patient, a definite role for <jats:italic>DSEL<\/jats:italic> and decorin in the formation of the collagen\u2010containing, central tendon of the diaphragm has not yet been established. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33341","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:24:05Z","timestamp":1269627845000},"page":"916-923","source":"Crossref","is-referenced-by-count":33,"title":["A maternally inherited chromosome 18q22.1 deletion in a male with late\u2010presenting diaphragmatic hernia and microphthalmia\u2013evaluation of <i>DSEL<\/i> as a candidate gene for the diaphragmatic defect"],"prefix":"10.1002","volume":"152A","author":[{"given":"Hatem","family":"Zayed","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Chao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Moshrefi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson","family":"LopezJimenez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen","family":"Delaney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30133"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010010"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-004-1269-5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201872"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1078\/S0171-9335(04)70020-5"},{"key":"e_1_2_8_7_1","article-title":"A male with unilateral microphthalmia reveals a role for TXNDC10 in eye","author":"Chao R","journal-title":"Development"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.136.3.729"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0813s59"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-002-0743-1"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<215::AID-AJMG13>3.0.CO;2-K"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2211010017"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001190"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M413924200"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M706442200"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/513442"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199611)16:11<1003::AID-PD995>3.0.CO;2-D"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31025"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21371"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513373200"},{"key":"e_1_2_8_21_1","first-page":"74","article-title":"Delayed presentation of congenital diaphragmatic hernia","volume":"35","author":"Numanoglu A","year":"1997","journal-title":"S Afr J Surg"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022855"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M004602200"},{"key":"e_1_2_8_25_1","doi-asserted-by":"crossref","first-page":"8877","DOI":"10.1074\/jbc.270.15.8877","article-title":"Decorin\u2010type I collagen interaction. 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