Professional
Technical
IVT
SDHB mutation
A genetic alteration in the succinate dehydrogenase complex iron sulfur subunit B gene associated with hereditary paraganglioma-pheochromocytoma syndrome.
Full Definition
SDHB mutations are pathogenic variants in the succinate dehydrogenase complex iron sulfur subunit B gene that predispose individuals to developing paragangliomas and pheochromocytomas. These mutations are inherited in an autosomal dominant pattern and are associated with more aggressive tumors compared to other SDH mutations. Patients with SDHB mutations require lifelong surveillance and genetic counseling for family members.
Usage
Usage note: Always specify which SDH subunit when discussing mutations to avoid confusion between different syndromes.
In Context
- "The patient's SDHB mutation status was confirmed through genetic testing following the diagnosis of malignant paraganglioma." — Genetic counseling report
- "Surveillance protocols for SDHB mutation carriers include annual biochemical screening and imaging studies." — Clinical guidelines document
Also known as
SDHB variant
succinate dehydrogenase B mutation
Don't confuse with
SDHA mutation
SDHC mutation
SDHD mutation