{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:01:13Z","timestamp":1791302473610,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,9,5]],"date-time":"2014-09-05T00:00:00Z","timestamp":1409875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:p>Hoyeraal\u2013Hreidarsson syndrome (<jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>) is a clinically severe variant of dyskeratosis congenita (<jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of <jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>. Germline mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">RTEL1<\/jats:styled-content><\/jats:italic> gene have recently been identified as causative of <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>. In this study, the carrier frequency for five <jats:italic><jats:styled-content style=\"fixed-case\">RTEL1<\/jats:styled-content><\/jats:italic> mutations that occurred in individuals of Ashkenazi Jewish descent was investigated in order to advise on including them in existing clinical mutation panels for this population. Our screening showed that the carrier frequency for c.<jats:styled-content style=\"fixed-case\">3791G<\/jats:styled-content>&gt;A (p.<jats:styled-content style=\"fixed-case\">R1264H<\/jats:styled-content>) was higher than expected, 1% in the Ashkenazi Orthodox and 0.45% in the general Ashkenazi Jewish population. Haplotype analyses suggested the presence of a common founder. We recommend that the c.<jats:styled-content style=\"fixed-case\">3791G<\/jats:styled-content>&gt;A <jats:italic><jats:styled-content style=\"fixed-case\">RTEL1<\/jats:styled-content><\/jats:italic> mutation be considered for inclusion in carrier screening panels in the Ashkenazi population.<\/jats:p>","DOI":"10.1111\/cge.12459","type":"journal-article","created":{"date-parts":[[2014,7,22]],"date-time":"2014-07-22T08:17:41Z","timestamp":1406017061000},"page":"177-181","source":"Crossref","is-referenced-by-count":18,"title":["Carrier screening of <i>RTEL1<\/i> mutations in the Ashkenazi Jewish population"],"prefix":"10.1111","volume":"88","author":[{"given":"A.M.","family":"Fedick","sequence":"first","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School  Piscataway NJ USA"},{"name":"Reproductive Medicine Associates of New Jersey  Basking Ridge NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3788-0924","authenticated-orcid":false,"given":"C.","family":"Jalas","sequence":"additional","affiliation":[{"name":"Bonei Olam, Center for Rare Jewish Genetic Disorders  Brooklyn NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.R.","family":"Treff","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School  Piscataway NJ USA"},{"name":"Reproductive Medicine Associates of New Jersey  Basking Ridge NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ekstein","sequence":"additional","affiliation":[{"name":"Dor Yeshorim, The Committee for Prevention of Jewish Diseases  Brooklyn NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kornreich","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Edelmann","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Savage","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute  Rockville MD 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