Table 1

FH mutations in newly characterised families with HLRCC (n = 21)

Family	Exon	Mutation	Codon	Predicted result	Renal tumour	Skin leiomyoma	Uterine fibroid
Mutations are named according to the recommendations for the nomenclature system for human gene mutations. Nucelotide numbering is according to the cytosolic FH sequence (GenBank accession number NM_000143), with the A of ATG initiator codon as nucleotide position 1.
*Novel mutations; †status unknown; ‡no women evaluated.
4000	1	111insA*	K37	Frameshift	Yes	Yes	NW‡
1600		138+1G>C*		Unknown	Yes	No	Yes
920	2	172C>T	R58X	Nonsense	Yes	Yes	Yes
4800	2	172C>T	R58X	Nonsense	Yes	Yes	Yes
4200	2	172C>T	R58X	Nonsense	Yes	Yes	Yes
5800	2	172C>T	R58X	Nonsense	No	Yes	Yes
1400	2	191A>C	N64T	Missense	No	Yes	Yes
6000	3	266T>C*	L89S	Missense	Yes	No	Yes
5400	3	305C>G*	S102X	Nonsense	Yes	No	NW‡
3000	3	349A>G*	R117G	Missense	No	Yes	Yes
5200	4	568C>T*	R190C	Missense	Yes	No	NW‡
5000	4	569G>A	R190H	Missense	No	Yes	Yes
2000	4	569G>A	R190H	Missense	Yes	Yes	Yes
6200	4	569G>A	R190H	Missense	Yes	Unknown†	Yes
3600	4	569G>A	R190H	Missense	No	Yes	NW‡
4600	4	569G>A	R190H	Missense	Yes	Yes	NW‡
5600	6	891T>A	N297K	Missense	No	Yes	Yes
960	6	964A>G	S322G	Missense	No	Yes	Yes
2400	7	1025C>A*	A342D	Missense	No	Yes	Yes
4400	8	1126T>C*	S376P	Missense	Yes	Yes	Yes
3800	8	1187A>C*	Q396P	Missense	Yes	Yes	Yes
Total families affected					62% (13/21)	76% (16/21)	100% (16/16)