{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:36Z","timestamp":1791327636085,"version":"4.3.1"},"reference-count":43,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,8,26]],"date-time":"2010-08-26T00:00:00Z","timestamp":1282780800000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N\u2009=\u2009179) for microdeletions in this interval by the multiplex ligation\u2010dependent probe amplification (MLPA) technique, and also sequenced two candidate genes located therein, dispatched 1 (<jats:italic>DISP1<\/jats:italic>) and homo sapiens H2.0\u2010like homeobox (<jats:italic>HLX<\/jats:italic>). MLPA analysis verified deletions of this region in two cases, an unreported patient with a 46,XY,del(1)(q41q42.13) karyotype and a previously reported patient with a Fryns syndrome phenotype [Kantarci et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib19\">2006<\/jats:ext-link>]. <jats:italic>HLX<\/jats:italic> sequencing showed a novel but maternally inherited single nucleotide variant (c.27C&gt;G) in a patient with isolated CDH, while <jats:italic>DISP1<\/jats:italic> sequencing revealed a mosaic de novo heterozygous substitution (c.4412C&gt;G; p.Ala1471Gly) in a male with a left\u2010sided Bochdalek hernia plus multiple other anomalies. Pyrosequencing demonstrated the mutant allele was present in 43%, 12%, and 4.5% of the patient's lymphoblastoid, peripheral blood lymphocytes, and saliva cells, respectively. We examined <jats:italic>Disp1<\/jats:italic> expression at day E11.5 of mouse diaphragm formation and confirmed its presence in the pleuroperitoneal fold, as well as the nearby lung which also expresses Sonic hedgehog (<jats:italic>Shh<\/jats:italic>). Our report describes the first de novo <jats:italic>DISP1<\/jats:italic> point mutation in a patient with complex CDH. Combining this finding with <jats:italic>Disp1<\/jats:italic> embryonic mouse diaphragm and lung tissue expression, as well as previously reported human chromosome 1q41q42 aberrations in patients with CDH, suggests that <jats:italic>DISP1<\/jats:italic> may warrant further consideration as a CDH candidate gene. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33618","type":"journal-article","created":{"date-parts":[[2010,8,30]],"date-time":"2010-08-30T17:52:54Z","timestamp":1283190774000},"page":"2493-2504","source":"Crossref","is-referenced-by-count":52,"title":["Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1<\/i>, in patients with CDH"],"prefix":"10.1002","volume":"152A","author":[{"given":"Sibel","family":"Kantarci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate 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