{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:14:17Z","timestamp":1792613657572,"version":"4.5.0"},"reference-count":65,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T00:00:00Z","timestamp":1353283200000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high\u2010resolution arrays in patients who carry a loss (n\u2009=\u200918) or a gain (n\u2009=\u20091) of sub\u2010band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein\u2013protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated <jats:italic>GATA4<\/jats:italic>, <jats:italic>NEIL2<\/jats:italic>, and <jats:italic>SOX7<\/jats:italic> in diaphragmatic defects. Sequence analysis of these genes in 226 chromosomally normal CDH patients, as well as in a small number of deletion 8p23.1 patients, showed rare unreported variants in the coding region; these may be contributing to the diaphragmatic phenotype. We also demonstrated that two of these three genes were expressed in the E11.5\u201312.5 primordial mouse diaphragm, the developmental stage at which CDH is thought to occur. This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35665","type":"journal-article","created":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T21:11:27Z","timestamp":1353359487000},"page":"3148-3158","source":"Crossref","is-referenced-by-count":55,"title":["Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks"],"prefix":"10.1002","volume":"158A","author":[{"given":"Mauro","family":"Longoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasper","family":"Lage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meaghan K.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Loscertales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Abdul\u2010Rahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven B.","family":"Bleyl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul D.","family":"Brady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih P.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur W.","family":"Grix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan F.","family":"Rope","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernarda","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline M.","family":"Coletti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faouzi I.","family":"Maalouf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin M.","family":"Noonan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji H.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam A.","family":"Tracy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia K.","family":"Donahoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara R.","family":"Pober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30128"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.048736"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10503"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.10.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201932"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32095"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(88)80380-4"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0008269"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1797"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-2845"},{"key":"e_1_2_6_15_1","first-page":"228","article-title":"Terminal deletion in chromosome region 8p23.1\u20108pter in a child with features of velo\u2010cardio\u2010facial syndrome","volume":"38","author":"Devriendt K","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.342"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(03)00270-7"},{"key":"e_1_2_6_19_1","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter\u20108p23.1)","volume":"32","author":"Fryns JP","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.23.10492-10503.2004"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/319506"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313331"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20751"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1994.1206"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkj144"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00303142"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.09.050"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/323043"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30132"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1086\/429842"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1295"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0810772105"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/msb.2010.36"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000334065"},{"key":"e_1_2_6_37_1","first-page":"17","article-title":"Involvement of a novel GATA4 mutation in atrial septal defects","volume":"28","author":"Liu XY","year":"2011","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.11.004"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2011.03.006"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2793"},{"key":"e_1_2_6_41_1","volume-title":"Congenital diaphragmatic hernia overview","author":"Pober BR","year":"2010"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.06.004"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1086\/302709"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01913"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001273"},{"key":"e_1_2_6_46_1","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen S","year":"2000","journal-title":"Methods Mol Biol"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121621109"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095928"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181484b49"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30778"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201652"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2651"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.3.532"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.21.4274"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80885-5"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1341-8076.2002.00053.x"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1169"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20613"},{"key":"e_1_2_6_59_1","first-page":"880","article-title":"Congenital diaphragmatic hernia: 22 years experience in a single tertiary medical center","volume":"10","author":"Vivante A","year":"2008","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_6_60_1","first-page":"557","article-title":"A novel GATA4 mutation responsible for congenital ventricular septal defects","volume":"28","author":"Wang J","year":"2011","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32896"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds241"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-011-0146-y"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507832102"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.111.960302"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201506"}],"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.35665","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:44:38Z","timestamp":1697633078000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,19]]},"references-count":65,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/ajmg.a.35665"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35665","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,19]]}}}