{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:56Z","timestamp":1789764836280,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T00:00:00Z","timestamp":1468281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010322","name":"Pakistan Academy of Sciences","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010322","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>Frontonasal dysplasia (<jats:styled-content style=\"fixed-case\">FND<\/jats:styled-content>) is a heterogeneous group of disorders characterized by hypertelorism, telecanthus, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella and smooth philtrum. To date one X\u2010linked and three autosomal recessive forms of <jats:styled-content style=\"fixed-case\">FND<\/jats:styled-content> have been reported in different ethnic groups. We sought to identify the gene responsible for <jats:styled-content style=\"fixed-case\">FND<\/jats:styled-content> in a consanguineous Pakistani family segregating the disorder in autosomal recessive pattern. Genome\u2010wide homozygosity mapping using <jats:styled-content style=\"fixed-case\">250KNsp<\/jats:styled-content> array revealed five homozygous regions in the selected affected individuals. Exome sequencing found a novel splice acceptor site variant (c.661\u2010<jats:styled-content style=\"fixed-case\">1G<\/jats:styled-content>&gt;C: NM_006982.2) in <jats:italic><jats:styled-content style=\"fixed-case\">ALX1<\/jats:styled-content><\/jats:italic>. Sanger sequencing confirmed the correct segregation of the pathogenic variant in the whole family. Our study concludes that the splice site variant identified in the <jats:italic><jats:styled-content style=\"fixed-case\">ALX1<\/jats:styled-content><\/jats:italic> gene causes mild form of <jats:styled-content style=\"fixed-case\">FND<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12822","type":"journal-article","created":{"date-parts":[[2016,6,21]],"date-time":"2016-06-21T09:25:02Z","timestamp":1466501102000},"page":"494-498","source":"Crossref","is-referenced-by-count":19,"title":["Exome sequencing revealed a novel splice site variant in the <i><scp>ALX1<\/scp><\/i> gene underlying frontonasal dysplasia"],"prefix":"10.1111","volume":"91","author":[{"given":"A.","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.\u2010E","family":"Kalsoom","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Umair","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"John","sequence":"additional","affiliation":[{"name":"Department of Healthcare Biotechnology Atta\u2010ur\u2010Rehman School of Applied Biosciences (ASAB), National University of Science &amp; Technology (NUST)  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Basit","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases Taibah University  Al Madinah Al Munawarah Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90014-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34390"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.002"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp369"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_11_1","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen S","year":"2000","journal-title":"Methods Mol Biol"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1085-7"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.1996.15.531"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-275"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.20.3975"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(94)90063-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(97)00497-6"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.8921"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00450-6"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-142X.2011.00489.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds423"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12822","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12822","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12822","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.12822","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T04:02:30Z","timestamp":1694145750000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,12]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/cge.12822"],"URL":"https:\/\/doi.org\/10.1111\/cge.12822","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,12]]}}}