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Familial cases account for 10% or more of these tumors, and mutations of the genes encoding subunits for the mitochondrial respiratory chain complex II, <jats:italic>SDHD<\/jats:italic>, <jats:italic>SDHB<\/jats:italic>, and <jats:italic>SDHC<\/jats:italic>, have been reported. We analyzed mutations in the all four <jats:italic>SDH<\/jats:italic> genes, <jats:italic>SDHA<\/jats:italic> through <jats:italic>SDHD<\/jats:italic>, in a Japanese family with cervical paraganglioma that include a father with bilateral tumors and his daughter with a malignant left carotid body tumor with nodal metastasis. This pedigree harbored a germline G106D alteration in exon 4 of the <jats:italic>SDHD<\/jats:italic> gene that has not previously been reported to date. The tumors of the father expressed biallelic <jats:italic>SDHD<\/jats:italic>, but the <jats:italic>SDHD<\/jats:italic> expression was highly suppressed by an unknown mechanism(s) in tumors of his daughter, and the wild\u2010type allele was predominantly suppressed in the metastatic node. These results suggest that the missense dysfunction of <jats:italic>SDHD<\/jats:italic> prepares neoplastic condition and that expressional silencing, particularly of the wild\u2010type allele, plays an important role in the malignant transformation of the paragangliomas. Our results may lead to a better understanding of this disease and to the development of methods for prevention of this disease. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31444","type":"journal-article","created":{"date-parts":[[2006,10,14]],"date-time":"2006-10-14T18:40:02Z","timestamp":1160851202000},"page":"2441-2446","source":"Crossref","is-referenced-by-count":34,"title":["A novel G106D alteration of the <i>SDHD<\/i> gene in a pedigree with familial 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