{"doi":"10.1111/j.1365-2265.2004.02122.x","title":"K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma","abstract":"<jats:title>Summary</jats:title><jats:p><jats:bold><jats:sc>objective </jats:sc></jats:bold> Germline mutations in succinate dehydrogenase (SDH)B, SDHC and SDHD, encoding three of the four subunits of mitochondrial complex II, have been implicated in the tumourigenesis of familial paragangliomas and phaeochromocytomas. Twenty‐three <jats:italic>SDHB</jats:italic> mutations have been identified to date.</jats:p><jats:p><jats:bold><jats:sc>patients </jats:sc></jats:bold> We present a novel missense <jats:italic>SDHB</jats:italic> exon 2 mutation (c.118 A &gt; G; K40E) identified in an Australian family. The proband was diagnosed with phaeochromocytoma at an early age following an unexpected hypertensive crisis and was found to be <jats:italic>SDHB</jats:italic> mutation‐positive. Subsequent genetic screening of 26 family members has identified 17 mutation‐positive relatives. In addition to the proband, four mutation positive relatives were found to have clinical symptoms or a lesion and/or catecholamine excess after the identification of the mutation led to further evaluation. Both the proband and an uncle have required surgical removal of a tumour.</jats:p><jats:p><jats:bold><jats:sc>conclusions </jats:sc></jats:bold> This family indicates the importance of germline screening of first‐degree relatives when a patient presents with an apparently sporadic extra adrenal phaeochromocytoma at a young age or whenever a patient with a nonsecretory paraganglioma is found.</jats:p>","journal":"Clinical Endocrinology","year":2004,"id":594951,"datarank":0.4636563680037475,"base_score":3.091042453358316,"endowment":3.091042453358316,"self_citation_contribution":0.4636563680037475,"citation_network_contribution":0.0,"self_endowment_contribution":0.4636563680037475,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":21,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":511828,"name":"Diana E. Benn","orcid":null,"position":1,"is_corresponding":false},{"id":309119,"name":"Deborah J. Marsh","orcid":"0000-0001-5899-4931","position":2,"is_corresponding":false},{"id":1523255,"name":"Bruce G. Robinson","orcid":null,"position":3,"is_corresponding":false},{"id":1523256,"name":"Margaret R. Zacharin","orcid":null,"position":4,"is_corresponding":false},{"id":1523254,"name":"Ciara M. McDonnell","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma","abstract":"<jats:title>Summary</jats:title><jats:p><jats:bold><jats:sc>objective </jats:sc></jats:bold> Germline mutations in succinate dehydrogenase (SDH)B, SDHC and SDHD, encoding three of the four subunits of mitochondrial complex II, have been implicated in the tumourigenesis of familial paragangliomas and phaeochromocytomas. Twenty‐three <jats:italic>SDHB</jats:italic> mutations have been identified to date.</jats:p><jats:p><jats:bold><jats:sc>patients </jats:sc></jats:bold> We present a novel missense <jats:italic>SDHB</jats:italic> exon 2 mutation (c.118 A &gt; G; K40E) identified in an Australian family. The proband was diagnosed with phaeochromocytoma at an early age following an unexpected hypertensive crisis and was found to be <jats:italic>SDHB</jats:italic> mutation‐positive. Subsequent genetic screening of 26 family members has identified 17 mutation‐positive relatives. In addition to the proband, four mutation positive relatives were found to have clinical symptoms or a lesion and/or catecholamine excess after the identification of the mutation led to further evaluation. Both the proband and an uncle have required surgical removal of a tumour.</jats:p><jats:p><jats:bold><jats:sc>conclusions </jats:sc></jats:bold> This family indicates the importance of germline screening of first‐degree relatives when a patient presents with an apparently sporadic extra adrenal phaeochromocytoma at a young age or whenever a patient with a nonsecretory paraganglioma is found.</jats:p>","is_dataset_classified":null,"base_score":3.091042453358316,"endowment":3.091042453358316,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15473885","pmcid":null,"openalex_id":"https://openalex.org/W2075585448","authors":[],"funders":[],"total_grants":0,"fwci":1.998,"citation_percentile":0.86619498,"influential_citations":0,"citation_trend":[{"year":2014,"count":3},{"year":2018,"count":1},{"year":2021,"count":1},{"year":2022,"count":1},{"year":2023,"count":1}],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2265.2004.02122.x","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2265.2004.02122.x","host_type":"publisher"},{"url":"https://doi.org/10.1111/j.1365-2265.2004.02122.x","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15473885","host_type":"repository"}],"fields_of_study":["Adrenal and Paraganglionic Tumors","Cancer, Hypoxia, and Metabolism","Pituitary Gland Disorders and Treatments"],"mesh_terms":["Adrenal Gland Neoplasms","Child","DNA Mutational Analysis","Female","Humans","Iron-Sulfur Proteins","Male","Paraganglioma","Pedigree","Pheochromocytoma","Succinate Dehydrogenase","Mutation, Missense","Protein Subunits"],"keywords":["SDHB","SDHD","Paraganglioma","Proband","Missense mutation","Germline mutation","Pheochromocytoma","Mutation","Internal medicine","Medicine","Endocrinology","Genetics","Germline","Exon","Succinate dehydrogenase","Biology","Pathology","Mitochondrion","Gene"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T16:02:21.910066Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}