{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T11:10:54Z","timestamp":1762686654878,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T00:00:00Z","timestamp":1580342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005297","name":"Uniwersytet Medyczny w Bialymstoku","doi-asserted-by":"publisher","award":["SUB\/1\/DN\/19\/001\/1106","N\/ST\/ZB\/17\/003\/1106"],"award-info":[{"award-number":["SUB\/1\/DN\/19\/001\/1106","N\/ST\/ZB\/17\/003\/1106"]}],"id":[{"id":"10.13039\/501100005297","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic variant, c.6963_6964dup, of <jats:italic>FRAS1<\/jats:italic>. In one family, the disorder presented with perinatal and prenatal lethality. One affected female from family 2 who was followed\u2010up for 32\u2009years, represented a relatively favorable long\u2010term outcome. She displayed the typical craniofacial dysmorphism, including right cryptophthalmos, cutaneous syndactyly, abnormalities of the stomathognatic system, bilateral atresia of the external ear canals resulting in conductive hearing loss, and malformations of the larynx, spleen, kidney, and genitourinary tract. Her intellectual capacities were normal. Our observations illustrate that expression and severity of FS, even when caused by the same pathogenic variant, may be quite different ranging from a lethal disorder to a condition with multiple physical malformations but normal psychomotor development. In addition, we propose that the <jats:italic>FRAS1<\/jats:italic> c.6963_6964dup variant may be a founder mutation in the Polish population. Therefore, it would be reasonable to test specifically for this variant first in any FS1 patient of Polish ancestry.<\/jats:p>","DOI":"10.1002\/ajmg.a.61495","type":"journal-article","created":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T12:54:02Z","timestamp":1580388842000},"page":"773-779","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the <scp><i>FRAS1<\/i><\/scp> gene"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9889-1969","authenticated-orcid":false,"given":"Alina T.","family":"Midro","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Stasiewicz\u2010Jarocka","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Borys","sequence":"additional","affiliation":[{"name":"Department of Maxillo\u2010Facial Surgery Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Hubert","sequence":"additional","affiliation":[{"name":"Department of Maxillo\u2010Facial Surgery Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo\u017cena","family":"Skotnicka","sequence":"additional","affiliation":[{"name":"Paediatric Otolaryngology of Clinic, Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Hassmann\u2010Pozna\u0144ska","sequence":"additional","affiliation":[{"name":"Paediatric Otolaryngology of Clinic, Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Sierpi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Prosthetic Dentistry Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Panasiuk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bialystok  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denny","family":"Schanze","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,30]]},"reference":[{"issue":"18","key":"e_1_2_9_2_1","first-page":"417","article-title":"Zaburzenia mowy u dziecka z zespo\u0142em Frasera [speech disorder in case of child with Fraser syndrome]","volume":"48","author":"Branicka T.","year":"1994","journal-title":"Polish Journal of Otolaryngology"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/scd.12297"},{"key":"e_1_2_9_4_1","unstructured":"GorlinR. &GoodmanR.(1977). Atlas of the face in genetic disorders ed 2 Mosby (Saint Louis)."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/scd.12247"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/afl109"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010122)98:3<263::AID-AJMG1092>3.0.CO;2-1"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03262810"},{"issue":"1","key":"e_1_2_9_9_1","first-page":"35","article-title":"Fraser syndrome in the twin's pregnancy","volume":"7","author":"Le\u015bniewicz R.","year":"2006","journal-title":"Gemellological Revivew"},{"issue":"3","key":"e_1_2_9_10_1","first-page":"152","article-title":"Ultrasound diagnosis of four fetuses with Fraser syndrome during pregnancy","volume":"69","author":"Le\u015bniewicz R.","year":"1998","journal-title":"Ginekologia Polska"},{"issue":"1","key":"e_1_2_9_11_1","first-page":"65","article-title":"Fraser syndrome in a newborn","volume":"19","author":"Midro A. T.","year":"1994","journal-title":"Pediatria polska"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12188"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(91)90202-N"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1774"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31399"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.623"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402760101"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32440"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"}],"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.61495","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61495","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61495","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61495","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T05:05:18Z","timestamp":1694063118000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61495"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,30]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/ajmg.a.61495"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61495","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,1,30]]},"assertion":[{"value":"2019-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}