{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T07:55:14Z","timestamp":1719820514451},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T00:00:00Z","timestamp":1370995200000},"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":[[2014,6]]},"abstract":"<jats:p>Niemann\u2013Pick type C (<jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>) disease is a rare autosomal recessive lysosomal storage disease, exhibiting an extremely heterogeneous clinical phenotype. It is a cellular lipid trafficking disorder characterized by the accumulation in the lysosomal\/late endosomal system of a variety of lipids, especially unesterified cholesterol. So far two genes, <jats:italic><jats:styled-content style=\"fixed-case\">NPC1<\/jats:styled-content><\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">NPC2<\/jats:styled-content><\/jats:italic>, have been linked to the disorder. It is a panethnic disease for which two isolates have been described. We present a novel <jats:italic><jats:styled-content style=\"fixed-case\">NPC1<\/jats:styled-content><\/jats:italic> mutation (p.<jats:styled-content style=\"fixed-case\">A1132P<\/jats:styled-content>; c.<jats:styled-content style=\"fixed-case\">3394G<\/jats:styled-content>&gt;C) identified in homozygosity in two patients originating from the same small town of an Aegean Sea island and the results of the broad screening of their extended families. Overall 153 individuals have so far been investigated and a total of 64 carriers were identified. Moreover a common descent of the individuals tested was revealed and all carriers could be traced back to a common surname, apparently originating from a common ancestor couple six generations back. The mutation was found associated with an uncommon haplotype in the island that is also present in other populations.<\/jats:p>","DOI":"10.1111\/cge.12200","type":"journal-article","created":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T18:44:37Z","timestamp":1369248277000},"page":"543-547","source":"Crossref","is-referenced-by-count":9,"title":["Niemann\u2013Pick type C disease: a novel <i><scp>NPC1<\/scp><\/i> mutation segregating in a Greek island"],"prefix":"10.1111","volume":"85","author":[{"given":"I.","family":"Mavridou","sequence":"first","affiliation":[{"name":"Department of Enzymology and Cellular Function Institute of Child Health Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cozar","sequence":"additional","affiliation":[{"name":"Department de Genetica, Facultat de Biologia Universitat de Barcelona, CIBERER, IBUB Barcelona 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