{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T10:33:15Z","timestamp":1726396395012},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T00:00:00Z","timestamp":1639008000000},"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":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cystic fibrosis is the most common life\u2010limiting autosomal recessive disease in western countries with an incidence of 1:2500 in United States and 1:1000 in some European countries. Similar incidences were noted for the Middle East with variations from 1 in 2560 to 1 in 15,876 according to the degree of consanguinity. This is a preliminary systematic study that aims to assess the incidence and carrier rate of cystic fibrosis in the Middle Eastern Lebanese population; known for a high frequency of consanguinity. One hundred thirteen DNA samples were collected from neonatal blood cards obtained from newborns to healthy unrelated families with no previous history of Cystic fibrosis. Screening for Cystic Fibrosis\u2010causing pathogenic variants was performed using next generation sequencing, and 17 different single nucleotide variants were detected, including six pathogenic and likely pathogenic. 5.5%\u20137% newborns were found to be carriers of a variant strongly suggestive of pathogenicity and comparable to published literature worldwide. This pilot analysis highlights the challenging interpretation of <jats:italic>CFTR<\/jats:italic> variants in a country underrepresented by large ethnic population analyses, and stresses the importance of premarital screening programs for Cystic fibrosis.<\/jats:p>","DOI":"10.1111\/ahg.12450","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T06:05:13Z","timestamp":1639116313000},"page":"80-86","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>CFTR<\/i> mutational screening by next\u2010generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population"],"prefix":"10.1111","volume":"86","author":[{"given":"Chantal","family":"Farra","sequence":"first","affiliation":[{"name":"Department of Pediatrics American University of Beirut Medical Center  Beirut Lebanon"},{"name":"Medical Genetics Unit, Department of pathology and Laboratory Medicine American University of Beirut Medical Center  Beirut Lebanon"},{"name":"Medical Genetics Unit Saint Joseph University  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johnny","family":"Awwad","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lama","family":"Hamadeh","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of pathology and Laboratory Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Khoueiry","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeina","family":"Halawi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of pathology and Laboratory Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Yazbeck","sequence":"additional","affiliation":[{"name":"Department of Pediatrics American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rose","family":"Daher","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of pathology and Laboratory Medicine American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirna","family":"Souaid","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of pathology and Laboratory Medicine American University of Beirut Medical Center  Beirut Lebanon"},{"name":"Medical Genetics Unit Saint Joseph University  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Layal","family":"Hamdar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony","family":"Yammine","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Saint Joseph University  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Yunis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics American University of Beirut Medical Center  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijpam.2015.05.006"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10041"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2009.01.004"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000171088"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00099506"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/48.6.348"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2008.03.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2010.08.001"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-720X.1988.tb01060.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22927"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm324"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000139510.00644.F7"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2014.00229"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.02.007"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.101"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00825.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2007.060081"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365513.2015.1031689"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2013.05.006"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000214453.74456.f3"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000029497"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12450","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ahg.12450","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ahg.12450","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T12:41:21Z","timestamp":1693140081000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,9]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/ahg.12450"],"URL":"https:\/\/doi.org\/10.1111\/ahg.12450","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,9]]},"assertion":[{"value":"2021-04-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}