{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:19:49Z","timestamp":1788848389891,"version":"build-2803163510"},"reference-count":36,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T00:00:00Z","timestamp":1674000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","award":["2019\/15873-6"],"award-info":[{"award-number":["2019\/15873-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2021\/11240-9"],"award-info":[{"award-number":["2021\/11240-9"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2021\/10363-0"],"award-info":[{"award-number":["2021\/10363-0"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2021\/10101-5"],"award-info":[{"award-number":["2021\/10101-5"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["304091\/2021-9"],"award-info":[{"award-number":["304091\/2021-9"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Limited information is available concerning the genetic spectrum of pheochromocytoma and paraganglioma (PPGL) patients in South America. Germline SDHB large deletions are very rare worldwide, but most of the individuals harboring the SDHB exon 1 deletion originated from the Iberian Peninsula.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Our aim was to investigate the spectrum of SDHB genetic defects in a large cohort of Brazilian patients with PPGLs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genetic investigation of 155 index PPGL patients was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification, and\/or target next-generation sequencing panel. Common ancestrality was investigated by microsatellite genotyping with haplotype reconstruction, and analysis of deletion breakpoint.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 155 index patients, heterozygous germline SDHB pathogenic or likely pathogenic variants were identified in 22 cases (14.2%). The heterozygous SDHB exon 1 complete deletion was the most frequent genetic defect in SDHB, identified in 8 out of 22 (36%) of patients. Haplotype analysis of 5 SDHB flanking microsatellite markers demonstrated a significant difference in haplotype frequencies in a case-control permutation test (P = 0.03). More precisely, 3 closer\/informative microsatellites were shared by 6 out of 8 apparently unrelated cases (75%) (SDHB-GATA29A05-D1S2826-D1S2644 | SDHB-186-130-213), which was observed in only 1 chromosome (1\/42) without SDHB exon 1 deletion (X2 = 29.43; P &amp;lt; 0.001). Moreover, all cases with SDHB exon 1 deletion had the same gene breakpoint pattern of a 15 678 bp deletion previously described in the Iberian Peninsula, indicating a common origin.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgad028","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T13:32:30Z","timestamp":1674048750000},"page":"2105-2114","source":"Crossref","is-referenced-by-count":9,"title":["Evidence for a Founder Effect of\n                    <i>SDHB<\/i>\n                    Exon 1 Deletion in Brazilian Patients With Paraganglioma"],"prefix":"10.1210","volume":"108","author":[{"given":"Gustavo F C","family":"Fagundes","sequence":"first","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Freitas-Castro","sequence":"additional","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas S","family":"Santana","sequence":"additional","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Caroline F","family":"Afonso","sequence":"additional","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janaina","family":"Petenuci","sequence":"additional","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana F A","family":"Funari","sequence":"additional","affiliation":[{"name":"Unidade de Adrenal, Laborat\u00f3rio de Endocrinologia Molecular e Celular LIM\/25, Divis\u00e3o de Endocrinologia e Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o 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Metabologia, Hospital das Cl\u00ednicas, Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 05403-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina R","family":"Victor","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Oncologia Cl\u00ednica, Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo (ICESP), Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 01246-000 ,","place":["Brasil"]},{"name":"Centro de Oncologia Cl\u00ednica, Rede D\u2019Or , S\u00e3o Paulo 04543-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela S M","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Oncologia Cl\u00ednica, Instituto do C\u00e2ncer do Estado de S\u00e3o Paulo (ICESP), Faculdade de Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 01246-000 ,","place":["Brasil"]},{"name":"Centro de Oncologia Cl\u00ednica, 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Medicina da Universidade de S\u00e3o Paulo , S\u00e3o Paulo 01246-000 ,","place":["Brasil"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"issue":"6","key":"2026041420192589100_dgad028-B1","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1210\/jc.2014-1498","article-title":"Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline","volume":"99","author":"Lenders","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2026041420192589100_dgad028-B2","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1097\/HJH.0000000000002438","article-title":"Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension","volume":"38","author":"Lenders","year":"2020","journal-title":"J 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