{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:59:41Z","timestamp":1740171581931,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T00:00:00Z","timestamp":1516838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Otolaryngology"],"published-print":{"date-parts":[[2018,6]]},"abstract":"Objective<\/jats:title>In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL<\/jats:styled-content>) are caused by germline variants in the succinate dehydrogenase genes (SDHD<\/jats:styled-content>, SDHB<\/jats:styled-content>, SDHAF<\/jats:styled-content>2). Here, we evaluate a four\u2010generation family linked to a novel SDHB<\/jats:styled-content> gene variant with the manifestation of a HNPGL<\/jats:styled-content>.<\/jats:p><\/jats:sec>Design<\/jats:title>A family\u2010based study.<\/jats:p><\/jats:sec>Setting<\/jats:title>The VU<\/jats:styled-content> University Medical Center (VU<\/jats:styled-content>mc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery.<\/jats:p><\/jats:sec>Participants and main outcome measures<\/jats:title>The index patients presented with an embryonic rhabdomyosarcoma and a non\u2010Hodgkin lymphoma. Array\u2010based comparative genomic hybridisation (aCGH<\/jats:styled-content>) analysis and multiplex ligation\u2010dependent probe amplification (MLPA<\/jats:styled-content>) revealed a novel deletion of exon 1\u20103 in the SDHB<\/jats:styled-content> gene, suspected to predispose to paraganglioma (PGL<\/jats:styled-content>)\/pheochromocytoma (PHEO<\/jats:styled-content>) syndrome type 4. Subsequently, genetic counselling and DNA<\/jats:styled-content> testing were offered to all family members at risk. Individuals that tested positive for this novel SDHB<\/jats:styled-content> gene variant were counselled and additional clinical evaluation was offered for the identification of HNPGL<\/jats:styled-content> and\/or PHEO<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>The DNA<\/jats:styled-content> of 18 family members was tested, resulting in the identification of 10 carriers of the exon 1\u20103 deletion in the SDHB<\/jats:styled-content> gene. One carrier was diagnosed with a carotid body PGL<\/jats:styled-content> and serum catecholamine excess, which was surgically excised. Negative SDHB<\/jats:styled-content><\/jats:italic> immunostaining of the carotid body tumour confirmed that it was caused by the SDHB<\/jats:styled-content><\/jats:italic> variant. The remaining 9 carriers showed no evidence of PGL<\/jats:styled-content>\/PHEO<\/jats:styled-content>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Deletion of exon 1\u20103 in the SDHB<\/jats:styled-content> gene is a novel germline variant associated with the formation of hereditary HNPGL<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/coa.13059","type":"journal-article","created":{"date-parts":[[2018,1,2]],"date-time":"2018-01-02T06:46:46Z","timestamp":1514875606000},"page":"841-845","source":"Crossref","is-referenced-by-count":2,"title":["A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred: A family\u2010based study"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4385-508X","authenticated-orcid":false,"given":"B.","family":"de Vos","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\/Head and Neck Surgery VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.A.","family":"Rijken","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\/Head and Neck Surgery VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Adank","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.W.J.","family":"Hoksbergen","sequence":"additional","affiliation":[{"name":"Division of Vascular Surgery Department of Surgery VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.P.","family":"Bayley","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.R.","family":"Leemans","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\/Head and Neck Surgery VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.F.","family":"Hensen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\/Head and Neck Surgery VU University Medical Center Amsterdam The Netherlands"},{"name":"Department of Otolaryngology\/Head and Neck Surgery Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,1,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1632"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-13-0529"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.11.8034"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-017-0803-4"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5454.848"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/321282"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.292.8.943"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0074"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21136"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/381054"},{"key":"e_1_2_8_12_1","unstructured":"Dutch guideline for oncology care.2016. 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