{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T04:31:12Z","timestamp":1767846672497,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Chudley\u2013McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in <jats:italic>GPSM2<\/jats:italic> have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three CMS patients from two unrelated families from the same Dutch village. We identified one homozygous frameshift <jats:italic>GPSM2<\/jats:italic> variants c.1473delG in all patients. We show that this variant arises from a shared, rare haplotype. Since the c.1473delG variant was found in Mennonite settlers, it likely originated in Europe. To support DNA diagnostics, we established an LOVD database for <jats:italic>GPSM2<\/jats:italic> containing all variants thus far described. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35808","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T09:32:30Z","timestamp":1363253550000},"page":"973-976","source":"Crossref","is-referenced-by-count":13,"title":["<scp><i>GPSM<\/i><\/scp><i>2<\/i> and Chudley\u2013<scp>M<\/scp>c<scp>C<\/scp>ullough Syndrome: A Dutch Founder Variant Brought to North America"],"prefix":"10.1002","volume":"161","author":[{"given":"Rowida","family":"Almomani","sequence":"first","affiliation":[{"name":"Center for Human and Clinical Genetics Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Center for Human and Clinical Genetics Leiden University Medical 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