Table 2.

Mutations identified in the SPG11 gene

Family	Location	Mutation (cDNA)	Effect on protein	RFLP	Reference study
RM306	Exon 1	C118T	Gln40X	TseI (loss)	Hehr et al., 2007
	Exon 2	G267A	Trp89X	—	Hehr et al., 2007
TK005	Exon 4	733_734 delAT	Met245Valfs	NlaIII (loss)	Stevanin et al., 2007
	Exon 31	C5974T	Arg1992X	TaqI (loss)	Stevanin et al., 2007
RM168	Exon 11	T2198G	Leu733X	MseI (loss)	Stevanin et al., 2007
RM190	Exon 14	A2608G	Ile870Valfs	—	Pippucci et al., 2009
IS005	Exon 17	3076_3077 insA	Arg1026fs	—	Hehr et al., 2007
RM171	Exon 26	4461_4462 delGT	Val1468Leufs	—	Lee et al., 2008
RM257	Intron 30	IVS30 + 1 G > A	Predicted exon 31 skipping	EcoP15I (loss)	This study
RM303	Exon 31	C5970G	Tyr1990X	BfaI (gain)	Denora et al., 2009
BR002	Exon 32	G6157A	Val2053Met	NlaIII (gain)	Del Bo et al., 2007
TOR015	Exon 39	7029_7030 insT	Val2344Cysfs	—	Stevanin et al., 2007

del = deletion; fs = frameshift; ins = insertion; IVS = intervening sequence; X = STOP codon; RFLP = restriction fragment length polymorphism.