{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:19:47Z","timestamp":1788848387792,"version":"build-2803163510"},"reference-count":29,"publisher":"Bioscientifica","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Screening studies have established genetic risk profiles for diseases such as multiple endocrine neoplasia type 1 (MEN1) and pheochromocytoma\u2013paraganglioma (PPGL). Founder effects play an important role in the regional\/national epidemiology of endocrine cancers, particularly PPGL. Founder effects in the Netherlands have been described for various diseases, some of which established themselves in South Africa due to Dutch emigration. The role of Dutch founder effects in South Africa has not been explored in PPGL.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>We performed a single-center study in South Africa of the germline genetic causes of isolated\/syndromic neuroendocrine tumors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Next-generation panel, Sanger sequencing and multiplex ligand-dependent probe amplification for endocrine neoplasia risk genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      From a group of 13 patients, we identified 6 with PPGL, 4 with sporadic or familial isolated pituitary adenomas, and 3 with clinical MEN1; genetic variants were identified in 9\/13 cases. We identified the Dutch founder exon 3 deletion in\n                      <jats:italic>SDHB<\/jats:italic>\n                      in two apparently unrelated individuals with distinct ethnic backgrounds that had metastatic PPGL. Asymptomatic carriers with this Dutch founder\n                      <jats:italic>SDHB<\/jats:italic>\n                      exon 3 deletion were also identified. Other PPGL patients had variants in\n                      <jats:italic>SDHB<\/jats:italic>\n                      , and\n                      <jats:italic>SDHD<\/jats:italic>\n                      and three\n                      <jats:italic>MEN1<\/jats:italic>\n                      variants were identified among MEN1 and young-onset pituitary adenoma patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3\n                      <jats:italic>SDHB<\/jats:italic>\n                      deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in\n                      <jats:italic>SDHx<\/jats:italic>\n                      genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/ec-21-0560","type":"journal-article","created":{"date-parts":[[2021,12,23]],"date-time":"2021-12-23T11:57:44Z","timestamp":1640260664000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":6,"title":["Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa"],"prefix":"10.1530","volume":"11","author":[{"given":"Debra M","family":"Gordon","sequence":"first","affiliation":[{"name":"University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Beckers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Castermans","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian J C M M","family":"Neggers","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliya","family":"Rostomyan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Bours","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Petrossians","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinciane","family":"Dideberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Beckers","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6130-2975","authenticated-orcid":true,"given":"Adrian F","family":"Daly","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, Li\u00e8ge Universit\u00e9, Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Endocrine Pathology","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1007\/s12022-020-09658-7","article-title":"What have we learned from molecular biology of paragangliomas and pheochromocytomas?","volume":"32","author":"Papathomas","year":"2021","unstructured":"Papathomas TGSuurd DPDPacak KTischler ASVriens MRLam AKde Krijger RR. 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