Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Table 2 Mutations of SDHB and SDHC found in this study.

Gene Gene	Exon-Intron	Mutation^a	Mutation (Protein)	Patient ID	Country of Origin	Age at Diagnosis	Sex (index case)	Family History	Clinical Features
SDHB	exon 2	c.136C>T	p.Arg46X	FGT68	United Kingdom	32	Female	Sister and father (?)	Vagal and jugulotympanic paraganglioma
SDHB	exon 2	c.141G>A	p.Trp47X	FGT62	Italy	35	Female	Two sisters and paternal aunt, all carriers	Metastatic multifocal retroperitoneal paraganglioma
SDHB	exon 3	c.281G>A	p.Arg94Lys	FGT57	Pakistan	56	Male	Brothers and a nephew (proband and nephew tested and positive)	Retroperitoneal paraganglioma, jugulotympanic paraganglioma, adrenal tumor
SDHB	exon 4	c.343C>T	p.Arg115X	FGT61	Netherlands	36	Female	Sister and female maternal cousin	Bifocal extra-adrenal paraganglioma
SDHB	intron 4	c.423+1G>A	Splice Site	S-003	Netherlands	50	Male	Sporadic	Jugulotympanic paraganglioma
SDHB	intron 4	c.423+1G>A	Splice Site	S-020	Netherlands	55	Male	Unknown	Carotid body paraganglioma, unilateral
SDHB	exon 7	c. 653G>C	p.Trp218Ser	FGT66	Netherlands	68	Female	Daughter with paraganglioma	Extra-adrenal paraganglioma left para-aortal
SDHC	exon 4	c.214C>T	p.Arg72Cys	S-048	Turkey	36	Male	Sporadic	Carotid body paraganglioma, unilateral

^aAll mutations are novel except p.Arg46X. Mutations described in this report follow the recommended nomenclature of the HGVS, update August 2004.

ISSN: 1471-2350