Anetoderma Associated With a Succinate Dehydrogenase Gene Mutation

2019 ◽  
Vol 155 (11) ◽  
pp. 1317 ◽  
Author(s):  
Adam K. Brys ◽  
Larissa G. Rodriguez-Homs ◽  
Samantha Wennerberg ◽  
Russell P. Hall ◽  
Matilda W. Nicholas
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Dehydrogenase Gene

An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma

2008 ◽  
Vol 123 (1) ◽  
pp. 141-144 ◽  
Author(s):  
R Garrel ◽  
P Raynaud ◽  
I Raingeard ◽  
C Muyshondt ◽  
Q Gardiner ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
World Literature ◽  
Neuroendocrine Tumour ◽  
Genetic Mutations ◽  
Dehydrogenase Gene ◽  
The World ◽  
Thyroid Papillary ◽  
History Of ◽  
Succinate Dehydrogenase Mutation

AbstractObjective:To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C.Method:A case report and a review of the world literature concerning succinate dehydrogenase mutations and laryngeal paraganglioma are presented.Results:We identified a laryngeal paraganglioma in a 38-year-old woman, related to a very rare, deleterious in exon 4 of the succinate dehydrogenase mutation C. This mutation was a non-sense mutation: c.183G >A leading to p.Trp61X. No other neuroendocrine tumour was identified in this case, but a thyroid papillary carcinoma was concomitantly discovered and cured.Conclusion:To our knowledge, this is the first report in the world literature of laryngeal paraganglioma related to a succinate dehydrogenase mutation C. The case presented underlines the fact that every patient with paraganglioma should be tested for succinate dehydrogenase genetic mutations, even if a family history of paraganglioma is absent, in order to enable appropriate clinical management and to improve our knowledge of familial paraganglioma.

scholarly journals Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

2019 ◽  
Vol 90 (4) ◽  
pp. 499-505 ◽  
Author(s):  
Mei Yin Wong ◽  
Katrina A. Andrews ◽  
Benjamin G. Challis ◽  
Soo-Mi Park ◽  
Carlo L. Acerini ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Mutation Carriers ◽  
Dehydrogenase Gene

scholarly journals Paraganglioma after Maternal Transmission of a Succinate Dehydrogenase Gene Mutation

2008 ◽  
Vol 93 (5) ◽  
pp. 1609-1615 ◽  
Author(s):  
Pascal Pigny ◽  
Audrey Vincent ◽  
Catherine Cardot Bauters ◽  
Monelle Bertrand ◽  
Vincent Thomas de Montpreville ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Maternal Transmission ◽  
Dehydrogenase Gene

Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort

2020 ◽  
Vol 92 (6) ◽  
pp. 545-553 ◽  
Author(s):  
Raquel G. Martins ◽  
Nuno Cunha ◽  
Helder Simões ◽  
Maria João Matos ◽  
João Silva ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Mutation Carriers ◽  
Dehydrogenase Gene

scholarly journals Multiple mutations across the succinate dehydrogenase gene complex are associated with boscalid resistance in Didymella tanaceti in pyrethrum

PLoS ONE ◽  
2019 ◽  
Vol 14 (6) ◽  
pp. e0218569 ◽  
Author(s):  
Tamieka Lee Pearce ◽  
Calum Rae Wilson ◽  
David Hugh Gent ◽  
Jason Barry Scott
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Complex ◽  
Dehydrogenase Gene

scholarly journals A Novel Succinate Dehydrogenase Subunit B Gene Mutation, H132P, Causes Familial Malignant Sympathetic Extraadrenal Paragangliomas

2004 ◽  
Vol 89 (1) ◽  
pp. 362-367 ◽  
Author(s):  
Margarete Maier-Woelfle ◽  
Michael Brändle ◽  
Paul Komminoth ◽  
Parvin Saremaslani ◽  
Sonja Schmid ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Succinate Dehydrogenase Subunit B ◽  
Subunit B

scholarly journals Resistance to Fluopyram, Fluxapyroxad, and Penthiopyrad in Botrytis cinerea from Strawberry

Plant Disease ◽  
2014 ◽  
Vol 98 (4) ◽  
pp. 532-539 ◽  
Author(s):  
Achour Amiri ◽  
Stacy M. Heath ◽  
Natalia A. Peres
Keyword(s):  
Succinate Dehydrogenase ◽  
Botrytis Cinerea ◽  
High Resistance ◽  
Gray Mold ◽  
Cross Resistance ◽  
The Novel ◽  
Resistance Development ◽  
Dehydrogenase Gene ◽  
Resistance Patterns ◽  
Subunit B

Succinate dehydrogenase inhibitors (SDHIs) constitute a mainstay in management of gray mold caused by Botrytis cinerea in strawberry and several other crops. In this study, we investigated the risks of resistance development to three newer SDHIs (i.e., fluopyram, fluxapyroxad, and penthiopyrad) and their cross-resistance with the previously registered boscalid. We investigated the mutations in the SdhB subunit and evaluated their impact on microbial fitness in field populations of B. cinerea. Amino acid substitutions associated with resistance to SDHIs were detected at three codons of the SdhB subunit (BH272R/Y/L, BP225F, and BN230I) in the succinate dehydrogenase gene of field isolates from Florida. The BH272R, BH272Y, BH272L, BP225F, and BN230I mutations were detected at frequencies of 51.5, 28.0, 0.5, 2.5, and 4%, respectively. Strong cross-resistance patterns were evident between boscalid and fluxapyroxad and penthiopyrad but not with fluopyram, except in BH272L, BP225F, and BN230I mutants. All five mutations conferred moderate to very high resistance to boscalid whereas the BH272Y conferred resistance to fluxapyroxad and penthiopyrad. The BH272L, BN230I, and BP225F mutations conferred high resistance to all four SDHIs tested. Resistance monitoring following the first use of penthiopyrad in strawberry fields in Florida in 2013 suggests potential for quick selection for highly resistant populations and warrants careful use of the newer SDHIs. No evidence of major fitness costs due to the mutations in the SdhB subunit was found, which indicates the potential ability of the mutants to survive and compete with wild-type isolates. Our study suggests high risks for rapid widespread occurrence of B. cinerea populations resistant to the novel SDHIs unless appropriate rotation strategies are implemented immediately upon registration.

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