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SDHB Gene Mutation

MedGen UID:
318144
Concept ID:
C1709980
Cell or Molecular Dysfunction
Synonyms: IP Gene Mutation; SDH Gene Mutation; SDH1 Gene Mutation; SDH2 Gene Mutation; SDHIP Gene Mutation; Succinate Dehydrogenase Complex Iron Sulfur Subunit B Gene Mutation

Definition

A change in the nucleotide sequence of the SDHB gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSDHB Gene Mutation

Professional guidelines

PubMed

Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K
Nat Rev Endocrinol 2024 Mar;20(3):168-184. Epub 2023 Dec 14 doi: 10.1038/s41574-023-00926-0. PMID: 38097671
Shrivastava MK, Curran JF, Sheerin F, Mohammadi BJ, Halliday D, MacKeith SAC
Otol Neurotol 2022 Aug 1;43(7):840-844. Epub 2022 Jul 4 doi: 10.1097/MAO.0000000000003557. PMID: 35802032
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER
J Med Genet 2018 Jun;55(6):384-394. Epub 2018 Jan 31 doi: 10.1136/jmedgenet-2017-105127. PMID: 29386252Free PMC Article

Recent clinical studies

Etiology

Nikiforchin A, Baron E, Wernberg JA, Sharma R
Ann Surg Oncol 2024 Jul;31(7):4197-4198. Epub 2024 Apr 13 doi: 10.1245/s10434-024-15267-z. PMID: 38615151
Kamai T, Murakami S, Arai K, Nishihara D, Uematsu T, Ishida K, Kijima T
BMC Cancer 2022 Mar 18;22(1):289. doi: 10.1186/s12885-022-09415-5. PMID: 35300626Free PMC Article
Mauer CB, Reys B, Wickiser J
Fam Cancer 2020 Jul;19(3):269-271. Epub 2020 Mar 21 doi: 10.1007/s10689-020-00174-5. PMID: 32200538
Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA
Clin Endocrinol (Oxf) 2017 Feb;86(2):286-296. Epub 2016 Oct 24 doi: 10.1111/cen.13246. PMID: 27678251
Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E
Ann Surg 2014 Jul;260(1):158-62. doi: 10.1097/SLA.0000000000000283. PMID: 24169168Free PMC Article

Diagnosis

White JA, Rodriguez J, Kandadai J, Kardas E, Chohan F, Michel G
Endocrine 2024 Feb;83(2):349-352. Epub 2023 Oct 11 doi: 10.1007/s12020-023-03555-9. PMID: 37821692
Kimura N, Ishikawa M, Shigematsu K
Endocr J 2022 May 30;69(5):523-528. Epub 2021 Dec 1 doi: 10.1507/endocrj.EJ21-0630. PMID: 34853215
Johnston PC, Mullan KR, Atkinson AB, Eatock FC, Wallace H, Gray M, Hunter SJ
Ulster Med J 2015 May;84(2):102-6. PMID: 26170485Free PMC Article
Peterson LA, Litzendorf M, Ringel MD, Vaccaro PS
Ann Vasc Surg 2014 Jul;28(5):1321.e9-12. Epub 2014 Feb 5 doi: 10.1016/j.avsg.2013.12.012. PMID: 24509376
Lee SA, Kim EH, Lee YM, Lee W, Min WK, Lee YJ, Huh JR, Lee WJ
Fam Cancer 2010 Dec;9(4):643-6. doi: 10.1007/s10689-010-9359-0. PMID: 20563860

Therapy

He J, Makey D, Fojo T, Adams KT, Havekes B, Eisenhofer G, Sullivan P, Lai EW, Pacak K
Endocrine 2009 Oct;36(2):189-93. Epub 2009 Jul 18 doi: 10.1007/s12020-009-9219-6. PMID: 19618298Free PMC Article

Prognosis

Nikiforchin A, Baron E, Wernberg JA, Sharma R
Ann Surg Oncol 2024 Jul;31(7):4197-4198. Epub 2024 Apr 13 doi: 10.1245/s10434-024-15267-z. PMID: 38615151
Kimura N, Ishikawa M, Shigematsu K
Endocr J 2022 May 30;69(5):523-528. Epub 2021 Dec 1 doi: 10.1507/endocrj.EJ21-0630. PMID: 34853215
Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E
Ann Surg 2014 Jul;260(1):158-62. doi: 10.1097/SLA.0000000000000283. PMID: 24169168Free PMC Article

Clinical prediction guides

Kamai T, Murakami S, Arai K, Nishihara D, Uematsu T, Ishida K, Kijima T
BMC Cancer 2022 Mar 18;22(1):289. doi: 10.1186/s12885-022-09415-5. PMID: 35300626Free PMC Article
Ellis RJ, Patel D, Prodanov T, Nilubol N, Pacak K, Kebebew E
Ann Surg 2014 Jul;260(1):158-62. doi: 10.1097/SLA.0000000000000283. PMID: 24169168Free PMC Article
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rötig A, Jeunemaitre X
J Clin Endocrinol Metab 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. PMID: 12364472

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