Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

Table 1

Mutations in ALS2 related disorders.

Patient	Exon/intron	Mutation	Predicted protein	Phenotypic classification	References
1	Intron 24	c.3836+1G>T	p.k1234fs*3	IAHSP	Racis et al., 2014 [5]
2	Intron 9	c.2000-2A>T	p.E724fs*32	IAHSP	Herzfeld et al., 2009 [6]
3	Exon 9	c.1825_1826ins5	p.E609fs*9	IAHSP	Sztriha et al., 2008 [7]
4	Exon 13	c.2529G>T	p.G1177*	IAHSP
5, 6	Exon 10	c.2143C>T	p.Q715*	IAHSP	Verschuuren-Bemelmans et al., 2008 [8]
7, 8	Exon 4	c.467G>A	p.C156Y	IAHSP	Eymard-Pierre et al., 2006 [9]
9, 10	Exon 18	c.2992C>T	p.R998*	IAHSP	Devon et al., 2003 [10]
11	Exon 32	c.4844delT	p.I331fs335	IAHSP	Gros-Louis et al., 2003 [11]
12–17	Exon 4	c.1130delAT	p.I331fs335	IAHSP	Eymard-Pierre et al., 2002 [12]
	Exon 13	c.2660delAT	p.N845fs858	IAHSP
	Exon 6	c.1471_1480del10	p.V491Gfs*3	IAHSP
	Exon 22	c.3742delA	p.M1206*	IAHSP
18–20	Exon 5	C.1548delAG	p.T475Tfs*70	IAHSP	Hadano et al., 2001 [4]
21	Exon 5; Exon 3	c.1427_1428del; c.145G>A	p.G477Afs*19; p.G49R	IAHSP	Our study
22-23	Exon 4; Exon 14	c.299G>T; c.2580-2A>G	p.S100I	JALS; JALS	Luigetti et al., 2013 [13]
24-25	Exon 22	c.3565delG	p.V1189WfsX19	JALS	Shirakawa et al., 2009 [2]
26	Exon 4	c.553delA	p.T185LfsX5	JALS	Kress et al., 2005 [14]
27–38	Exon 3	c.138delA	p.A46AfsX5	JALS	Hadano et al., 2001 [4]
39–41	Intron 17	c.2980-A>G	p.T993fs*7	JPLS	Mintchev et al., 2009 [15]
42	Exon 6	c.1619G	p.G540E	JPLS	Panzeri et al., 2006 [16]