{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:14:24Z","timestamp":1790280864857,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T00:00:00Z","timestamp":1562630400000},"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":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Warsaw breakage syndrome (WABS), caused by bi\u2010allelic variants in the <jats:italic>DDX11<\/jats:italic> gene, is a rare cohesinopathy characterized by pre\u2010 and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia. The <jats:italic>DDX11<\/jats:italic> gene codes for an iron\u2013sulfur DNA helicase in the Superfamily 2 helicases and plays an important role in genomic stability and maintenance. Fourteen individuals with WABS have been previously reported in the medical literature. Affected individuals have been of various ethnic backgrounds with different pathogenic variants. We report two unrelated individuals of Ashkenazi Jewish descent affected with WABS, who are homozygous for the c.1763\u20101G&gt;C variant in the <jats:italic>DDX11<\/jats:italic> gene. Their phenotype is consistent with previously reported individuals. RNA studies showed that this variant causes an alternative splice acceptor site leading to a frameshift in the open reading frame. Carrier screening of the c.1763\u20101G&gt;C variant in the Jewish population revealed a high carrier frequency of 1 in 68 in the Ashkenazi Jewish population. Due to the high carrier frequency and the low number of affected individuals, we hypothesize a high rate of miscarriage of homozygous fetuses and\/or subfertility for carrier couples. If the carrier frequency is reproducible in additional Ashkenazi Jewish populations, we suggest including <jats:italic>DDX11<\/jats:italic> to Ashkenazi Jewish carrier screening panels.<\/jats:p>","DOI":"10.1002\/ajmg.a.61284","type":"journal-article","created":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T10:54:04Z","timestamp":1562669644000},"page":"2144-2151","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4906-7428","authenticated-orcid":false,"given":"Rachel","family":"Rabin","sequence":"first","affiliation":[{"name":"Clinical Genetic Services, Department of Pediatrics NYU School of Medicine  New York New 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