Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas

This study demonstrates that two mis-sense mutations at the start codon of the SDHD gene, including p.Met1Val (c.1A > G) and p.Met1Ile (c.3G > C), might be mutation hotspots in Chinese patients with familial HNPGLs.