Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas.
Sunita M C De SousaJohn ToubiaTristan S E HardyJinghua FengPaul WangAndreas W SchreiberJoel GeogheganRachel HallLesley RawlingsMichael E BucklandCatherine LuxfordTalia NovosRoderick J Clifton-BlighNicola K PoplawskiHamish S ScottDavid J TorpyPublished in: Journal of the Endocrine Society (2020)
This is the deepest intronic variant to be reported among the SDHx genes. Intronic variants beyond the limits of standard gene sequencing analysis should be considered in patients with SDH-deficient tumors but negative genetic test results.