{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:32Z","timestamp":1791327632372,"version":"4.3.1"},"reference-count":18,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"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":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Donnai\u2013Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS\/FOAR] is a rare autosomal recessive disorder resulting from mutations in the <jats:italic>LRP2<\/jats:italic> gene located on chromosome 2q31.1. We report a unique DBS\/FOAR patient homozygous for a 4\u2010bp <jats:italic>LRP2<\/jats:italic> deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild\u2010type <jats:italic>LRP2<\/jats:italic> alleles. This is the first case of DBS\/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32381","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:24:17Z","timestamp":1213410257000},"page":"1842-1847","source":"Crossref","is-referenced-by-count":52,"title":["Donnai\u2013Barrow syndrome (DBS\/FOAR) in a child with a homozygous <i>LRP2<\/i> mutation due to complete chromosome 2 paternal isodisomy"],"prefix":"10.1002","volume":"146A","author":[{"given":"Sibel","family":"Kantarci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola K.","family":"Ragge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. 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