ArticleThe Journal of clinical endocrinology and metabolism2016
A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.
Article in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels inAntioxidants (Basel, Switzerland) · 2025Review
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Applications of genomic research in pediatric endocrine diseases.Clinical and experimental pediatrics · 2023Article
- Paraganglioma with High Levels of Dopamine, Dopa Decarboxylase Suppression, Dopamine β-hydroxylase Upregulation and Intra-tumoral Melanin Accumulation: A Case Report with a Literature Review.Internal medicine (Tokyo, Japan) · 2023Review
- Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.Frontiers in oncology · 2023Article
- Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.Endocrine connections · 2022Article
- New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications.Cancers · 2022Review
- International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.Nature reviews. Endocrinology · 2021Review
- Succinate Mediates Tumorigenic EffectsFrontiers in endocrinology · 2021Article
- Aberrant Splicing ofJournal of the Endocrine Society · 2020Article
- Review
- Clinical implications of the oncometabolite succinate in SDHx-mutation carriers.Clinical genetics · 2020Review
- Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.Oncotarget · 2019Article
- Precision Surgery for Pheochromocytomas and Paragangliomas.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2019Review
- Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genesJournal of medical genetics · 2018Article
- When should genetic testing be performed in patients with neuroendocrine tumours?Reviews in endocrine & metabolic disorders · 2017Review
- PRECISION MEDICINE: AN UPDATE ON GENOTYPE/BIOCHEMICAL PHENOTYPE RELATIONSHIPS IN PHEOCHROMOCYTOMA/PARAGANGLIOMA PATIENTS.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2017Review
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMore than 40% of patients with paragangliomas (PGLs) harbor a germline mutation of the known PGL susceptibility genes, mainly in the SDHB or SDHD genes.
objectiveThe objective of the study was to characterize the genetic background of the French Canadian (FC) patients with PGLs and provide new clinical and paraclinical insights on SDHC-related PGLs.
methodsGenetic testing has been offered to FC patients affected with PGLs followed up at the adrenal genetics clinic at Centre hospitalier de l'Université de Montréal. After genetic counseling, 29 FC patients consented for PGL genetic testing.
resultsThirteen of 29 patients (44.8%) carried a germline mutation. The same heterozygous nonsense mutation at codon 133 of exon 5 of the SDHC gene (c.397C>T, p.[Arg133Ter]) was found in nine patients, representing 69.2% of the patients having a germline mutation. Seventy percent of these patients had head and neck PGLs. Twenty percent had multiple and 30% had malignant PGLs. We traced back the ascending genealogy of 10 index cases (nine patients from our cohort and one patient referred to us) and found that this mutation was most probably introduced in Nouvelle France by a couple of French settlers who established themselves in the 17th century.
conclusionsWe found that 31% of the PGLs in the French Canadian can be explained by the SDHC mutation (c.397C>T, p.[Arg133Ter]). The dominance of the SDHC mutation is unique to the FCs and is most likely due to a French founder effect. SDHC gene analysis should be prioritized in FC patients with PGL.
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