{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:03:30Z","timestamp":1790694210027,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2001,4,27]],"date-time":"2001-04-27T00:00:00Z","timestamp":988329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2001,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject to age\u2010dependent penetrance and imprinting. The paraganglioma gene (<jats:italic>PGL1<\/jats:italic>) has been mapped to 11q22.3\u2013q23, and recently germline mutations in the <jats:italic>SDHD<\/jats:italic> gene have been identified. The <jats:italic>SDHD<\/jats:italic> region contains another gene, <jats:italic>DPP2\/TIMM8B<\/jats:italic>, the homolog of which causes dystonia and deafness seen in Mohr\u2010Tranebjaerg syndrome. Using four PGL pedigrees, two of which exhibit coinheritance of PGL and sensorineural hearing loss or tinnitus, analysis of 14 microsatellite markers provided support for linkage to the <jats:italic>PGL1<\/jats:italic> locus. Sequence analysis identified novel mutations in exon 1 and exon 3 of the <jats:italic>SDHD<\/jats:italic> gene, including a novel two base pair deletion in exon 3 creating a premature stop codon at position 67; a novel three base pair deletion in exon 3 resulting in the loss of Tyr\u201093; a missense mutation in exon 3 resulting in the substitution of Leu\u201081 for Pro\u201081; and a novel G\u2010to\u2010C substitution in exon 1 resulting in the substitution of Met\u20101 for Ile\u20101. No base changes were detected in the <jats:italic>DPP2\/TIMM8B<\/jats:italic> gene. There was no apparent loss of heterozygosity at the site of the <jats:italic>SDHD<\/jats:italic> mutations. However, RT\u2010PCR analysis of tumor samples showed monoallelic expression of the mutant (paternal) allele as expected for imprinting. This has not previously been shown for this disorder. The inheritance and expression of the <jats:italic>SDHD<\/jats:italic> gene is consistent with the <jats:italic>PGL1<\/jats:italic> gene being subject to genomic imprinting. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.1142","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T20:37:10Z","timestamp":1030307830000},"page":"255-263","source":"Crossref","is-referenced-by-count":62,"title":["Novel mutations in the <i>SDHD<\/i> gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss"],"prefix":"10.1002","volume":"31","author":[{"given":"Renee F.","family":"Badenhop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay","family":"Cherian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reginald S.A.","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bora E.","family":"Baysal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.M.","family":"Taschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter R.","family":"Schofield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,4,27]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"121","article-title":"Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23","volume":"60","author":"Baysal BE","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050939"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5454.848"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870110202"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.1.7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472358"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(79)80008-8"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0967-2109(98)00005-2"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217356"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225075"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1994.01880350023005"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<66::AID-AJMG14>3.0.CO;2-S"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0311"},{"key":"e_1_2_6_16_1","volume-title":"Handbook of human genetic linkage","author":"Terwilliger JD","year":"1994"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91908-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/301951"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.1142","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.1142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:39:14Z","timestamp":1700321954000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.1142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4,27]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,7]]}},"alternative-id":["10.1002\/gcc.1142"],"URL":"https:\/\/doi.org\/10.1002\/gcc.1142","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,4,27]]}}}