Prevalence of <i>SDHB, SDHC</i>, and <i>SDHD</i> germline mutations in clinic patients with head and neck paragangliomas

Abstract

Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.