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PGL is caused by germ line heterozygous inactivating mutations in the <jats:italic>SDHB<\/jats:italic> (<jats:italic>PGL4<\/jats:italic>), <jats:italic>SDHC<\/jats:italic> (<jats:italic>PGL3<\/jats:italic>), or <jats:italic>SDHD<\/jats:italic> (<jats:italic>PGL1<\/jats:italic>) genes, which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase; SDH). Common tumor sites include the carotid body in the neck and paraganglia in the abdomen. The risk of tumor development associated with <jats:italic>SDHD<\/jats:italic> mutations is determined by the sex of the transmitting parent, because only a paternal transmission leads to tumorigenesis in the progeny. This transmission pattern suggests operation of genomic imprinting on the <jats:italic>SDHD<\/jats:italic> gene. There is also evidence that the risk of tumor development increases at higher altitudes among <jats:italic>SDHD<\/jats:italic> mutation carriers. Accordingly, the increased prevalence of <jats:italic>SDHD<\/jats:italic> mutations in the Netherlands, attributable to multiple founder mutations, has been explained in part by the low altitudes in this country, which presumably reduce gene penetrance and relax the natural selection. Thus, PGL caused by <jats:italic>SDHD<\/jats:italic> mutations represents an unusual example of an inherited monogenic tumor syndrome because the risk of tumorigenesis shows an absolute dependence on the sex of the transmitting parent and may be modified by a ubiquitous environmental factor. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30018","type":"journal-article","created":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T20:01:01Z","timestamp":1088712061000},"page":"85-90","source":"Crossref","is-referenced-by-count":58,"title":["Genomic imprinting and environment in hereditary paraganglioma"],"prefix":"10.1002","volume":"129C","author":[{"given":"Bora E.","family":"Baysal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,7]]},"reference":[{"key":"e_1_2_3_2_1","first-page":"636","article-title":"Chronic hypoxia and chemodectomas in bovines at high altitudes","volume":"100","author":"Arias\u2010Stella J","year":"1976","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(76)80052-4"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0969-6"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/321282"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.1142"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.617"},{"key":"e_1_2_3_8_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_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050939"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5454.848"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.178"},{"key":"e_1_2_3_12_1","article-title":"An Alu\u2010mediated partial SDHC deletion causes familial and sporadic paraganglioma","author":"Baysal BE","journal-title":"J Med Genet"},{"key":"e_1_2_3_13_1","first-page":"89","article-title":"Genetic imprinting map","volume":"93","author":"Beechey CV","year":"1995","journal-title":"Mouse Genome"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206300"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/94.12.894"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200829"},{"key":"e_1_2_3_17_1","first-page":"2061","article-title":"Frequent germ\u2010line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma","volume":"8","author":"Dannenberg H","year":"2002","journal-title":"Clin Cancer Res"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302938"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200110000-00029"},{"key":"e_1_2_3_20_1","first-page":"525","volume-title":"The metabolic and molecular basis of inherited disease","author":"Feinberg AP","year":"2003"},{"key":"e_1_2_3_21_1","first-page":"5615","article-title":"Mutations in the SDHB gene are associated with extra\u2010adrenal and\/or malignant phaeochromocytomas","volume":"63","author":"Gimenez\u2010Roqueplo AP","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1994.74.4.829"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19801101)46:9<2116::AID-CNCR2820460934>3.0.CO;2-S"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.1.7"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472358"},{"key":"e_1_2_3_26_1","first-page":"497","article-title":"Hyperplasia of vagal and carotid body paraganglia in patients with chronic hypoxemia","volume":"91","author":"Lack EE","year":"1978","journal-title":"Am J Pathol"},{"key":"e_1_2_3_27_1","first-page":"1","volume-title":"Pathology of adrenal and extra\u2010adrenal paraganglia","author":"Lack EE","year":"1994"},{"key":"e_1_2_3_28_1","first-page":"301","article-title":"Carotid body hyperplasia in cystic fibrosis and cyanotic heart disease. 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