{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T23:08:52Z","timestamp":1790291332326,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,10,13]],"date-time":"2013-10-13T00:00:00Z","timestamp":1381622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008982","name":"Qatar National Research Fund","doi-asserted-by":"crossref","award":["(NPRP 4-093-3-035)"],"award-info":[{"award-number":["(NPRP 4-093-3-035)"]}],"id":[{"id":"10.13039\/100008982","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>Whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> as a molecular diagnostic tool to identify disease\u2010causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> approach, we identified the definitive disease\u2010causing mutations in four families: (i) a novel nonsense homozygous (c.<jats:styled-content style=\"fixed-case\">1034C<\/jats:styled-content>&gt;G) in <jats:italic><jats:styled-content style=\"fixed-case\">PHKG2<\/jats:styled-content><\/jats:italic> causing glycogen storage disease type 9C (<jats:styled-content style=\"fixed-case\">GSD9C<\/jats:styled-content>) in a male with initial diagnosis of <jats:styled-content style=\"fixed-case\">GSD3<\/jats:styled-content>; (ii) a novel homozygous 1\u2010bp deletion (c.915del) in <jats:italic><jats:styled-content style=\"fixed-case\">NSUN2<\/jats:styled-content><\/jats:italic> in a male proband with Noonan\u2010like syndrome; (iii) a homozygous <jats:styled-content style=\"fixed-case\">SNV<\/jats:styled-content> (c.<jats:styled-content style=\"fixed-case\">1598C<\/jats:styled-content>&gt;G) in exon 11 of <jats:italic><jats:styled-content style=\"fixed-case\">IDUA<\/jats:styled-content><\/jats:italic> causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a <jats:italic>de novo<\/jats:italic> known splicing mutation (c.1645+<jats:styled-content style=\"fixed-case\">1G<\/jats:styled-content>&gt;A) in <jats:italic><jats:styled-content style=\"fixed-case\">PHEX<\/jats:styled-content><\/jats:italic> in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying <jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content> as a diagnostic tool led to the unambiguous identification of disease\u2010causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in \u02dc25% of our cases.<\/jats:p>","DOI":"10.1111\/cge.12280","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T15:48:43Z","timestamp":1381247323000},"page":"134-141","source":"Crossref","is-referenced-by-count":79,"title":["Whole exome sequencing unravels disease\u2010causing genes in consanguineous families in Qatar"],"prefix":"10.1111","volume":"86","author":[{"given":"S.","family":"Fahiminiya","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Faculty of Medicine McGill University and Genome Quebec Innovation Center Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Almuriekhi","sequence":"additional","affiliation":[{"name":"Section of Clinical and Metabolic Genetics, Department of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Cytogenetic and Molecular Cytogenetic Laboratory, Department of Laboratory, Medicine and Pathology Hamad Medical Corporation Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Staffa","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Faculty of Medicine McGill University and Genome Quebec Innovation Center Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Lepage","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Faculty of Medicine McGill University and Genome Quebec Innovation Center Montreal 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