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Article

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

The Journal of clinical endocrinology and metabolism - 1 Dec 2016

Bourdeau Isabelle, Grunenwald Solange, Burnichon Nelly, Khalifa Emmanuel, Dumas Nadine, Binet Marie-Claire, Nolet Serge, Gimenez-Roqueplo Anne-Paule

Abstract excerpt

BACKGROUND: More than 40% of patients with paragangliomas (PGLs) harbor a germline mutation of the known PGL susceptibility genes, mainly in the SDHB or SDHD genes. OBJECTIVE: The 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. METHODS: Genetic testing has been offered to FC...

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Identifiers

PMID: 27700540
DOI: 10.1210/jc.2016-1665
PMCID: PMC5155677

Genes

SDHC
SDHB
SDHD

Variants

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