SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Table 1 SETX gene mutations in Italian AOA2 patients

Patient code	Nucleotide changes	Exon	mRNA or protein change	Genetic status	Reference
P815	c.411delTT	5	p.L137LfsX14	Homozygous	This study
P641	c.498-?_718+?del	6	Out of frame ex 6 deletion	Homozygous	This study
P390	c.5649_5685ins36bp	13	p.S1882_L1883ins12	Homozygous	This study
D1642	c.6546+2T>C	19	p.G2184SfsX9	Homozygous	This study
P521	c.6638C>T	20	p.P2213L	Homozygous	Moreira, 2004
P1890	Large deletion Exons16-23	16-23	Predicted ex 16-23 skipping	Homozygous	This study
A317	c.719-2A>G c.6486delA	7	In frame ex 7 skipping p.L2162LfsX42	Compound Heterozygous	This study
A317	c.719-2A>G c.6486delA	19	In frame ex 7 skipping p.L2162LfsX42	Compound Heterozygous	This study
P522	c.992T>A	8	p.I331K	Compound Heterozygous	This study
P522	c.838-?_5724+?del	8-10	Predicted ex 8-10 skipping	Compound Heterozygous	This study
P2426	c.1487C>T	10	p.P496L	Compound Heterozygous	This study Anheim, 2009
P2426	c.2387-2390delAGAA	10	p.K796fsX15	Compound Heterozygous	This study Anheim, 2009
H1207*	c.6686T>C	21	p.M2229T	Compound Heterozygous	This study Anheim, 2009
P1277*	c.7240C>T	25	p.R2414X	Compound Heterozygous	This study Anheim, 2009
P2062	c.7240C>T	25	p.R2414X	Compound Heterozygous	Anheim, 2009 This study
P2062	c.7626delG	26	p.L2542LfsX42	Compound Heterozygous	Anheim, 2009 This study
P657	c.1738delG	10	p.E580KfsX9	Compound Heterozygous	This study
P657	?	23	out of frame exon 23 skipping	Compound Heterozygous	This study
P440	c.2975A>G	10	p. K992R	Homozygous	^§ Sequence variant polymorphism

SETX Accession Number: NM_015046.5. In bold the novel missense SETX mutations identified in this study. Asterisk indicate that subjects P1277 and H1207 are siblings. §c.2975A>G is a benign genetic variant.

ISSN: 1750-1172