{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T16:36:41Z","timestamp":1756571801931,"version":"3.40.5"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T00:00:00Z","timestamp":1575936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Donnai\u2010Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele. This condition is associated with loss\u2010of\u2010function mutations in the <jats:italic>LRP2<\/jats:italic> gene. Few cases have been described in the literature. In our case, CDH and ACC were prenatally diagnosed by ultrasound, and the fetus was the product of a first\u2010degree union. Single\u2010nucleotide polymorphism\u2010microarray showed large regions of homozygosity. Whole exome sequencing (WES) was performed and revealed a homozygous frameshift pathogenic variant in <jats:italic>LRP2<\/jats:italic> (c.6978dupG). Here, we present a case of DBS, which diagnosed prenatally via WES in a fetus with CDH and ACC.<\/jats:p>","DOI":"10.1002\/ajmg.a.61428","type":"journal-article","created":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T14:11:47Z","timestamp":1575987107000},"page":"289-292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A prenatally diagnosed case of Donnai\u2010Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9194-8504","authenticated-orcid":false,"given":"Halis","family":"Ozdemir","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Maryland School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenna","family":"Plamondon","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Maryland School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Gaskin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Cardiology University of Maryland School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet R.","family":"Asoglu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Maryland School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sifa","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of Maryland School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.05.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2063"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.5603\/GP.a2017.0005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.08.007"},{"key":"e_1_2_6_7_1","unstructured":"Longoni M. Kantarci S. Donnai D. &Pober PB.(1993\u20132019). Donnai\u2010Barrow syndrome. InAdam M. P. Ardinger H. H. &Pagon R. A. et al. (Eds.). GeneReviews\u00ae [Internet]. Seattle WA: University of Washington. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1878"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-017-1992-0"}],"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.61428","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61428","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61428","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61428","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T00:21:19Z","timestamp":1694132479000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61428"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,10]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/ajmg.a.61428"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61428","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,12,10]]},"assertion":[{"value":"2019-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}