{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T04:39:28Z","timestamp":1793939968566,"version":"4.8.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,9,2]],"date-time":"2013-09-02T00:00:00Z","timestamp":1378080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alport syndrome is an inherited progressive nephropathy arising from mutations in the type <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> collagen genes, <jats:italic><jats:styled-content style=\"fixed-case\">COL4A3<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">COL4A4<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">COL4A5<\/jats:styled-content><\/jats:italic>. Symptoms also include sensorineural hearing loss and ocular lesions. We determined the molecular basis of Alport syndrome in a non\u2010consanguineous Ashkenazi Jewish family with multiple affected females using linkage analysis and next generation sequencing. We identified a homozygous <jats:italic><jats:styled-content style=\"fixed-case\">COL4A3<\/jats:styled-content><\/jats:italic> mutation, c.40_63del, in affected individuals with mutant alleles inherited from each parent on partially conserved haplotypes. Large\u2010scale population screening of 2017 unrelated Ashkenazi Jewish samples revealed a carrier frequency of 1 in 183 indicating that <jats:italic><jats:styled-content style=\"fixed-case\">COL4A3<\/jats:styled-content><\/jats:italic> c.40_63del is a founder mutation which may be a common cause of Alport syndrome in this population. Additionally, we determined that heterozygous mutation carriers in this family do not meet criteria for a diagnosis of Thin Basement Membrane Nephropathy and concluded that carriers of c.40_63del are not likely to develop benign familial hematuria.<\/jats:p>","DOI":"10.1111\/cge.12247","type":"journal-article","created":{"date-parts":[[2013,8,8]],"date-time":"2013-08-08T15:09:18Z","timestamp":1375974558000},"page":"155-160","source":"Crossref","is-referenced-by-count":15,"title":["A founder mutation in <i><scp>COL4A3<\/scp><\/i> causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population"],"prefix":"10.1111","volume":"86","author":[{"given":"B.D.","family":"Webb","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"},{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Brandt","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Jalas","sequence":"additional","affiliation":[{"name":"Bonei Olam, Center for Rare Jewish Genetic Disorders Brooklyn NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fedick","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics UMDNJ\u2010Robert Wood Johnson Medical School Piscataway NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.D.","family":"Linderman","sequence":"additional","affiliation":[{"name":"Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.A.","family":"Diaz","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kornreich","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Trachtman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics New York University School of Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Edelmann","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY 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