Table 2. Mutations in the SLC7A7 gene causing LPI in the patients analysed.

Patient no.	Nucleotide change	Predicted protein change	Status	Exon/Intron	Mutation type	Geographic origin
1	c.1228C>T	p.R410X	Homozygote	9	Nonsense	Moroccan
2	c.820dupT c.625+1G>C	p.Y274fsX21 p.C167_G209delinsX	Compound heterozygote	6 4	Frameshift Splice site	English/Argentinean
3	c.1273T>C c.500−4294_1908+1028 del12136	p.C425R p.L168_N511delfsX19	Compound heterozygote	10 I3-3′region	Missense Large rearrangement	Spanish
4	c.1185_1188delTTCT	p.S396fsX121	Homozygote	9	Frameshift	Spanish
5	c.771−848_1908+718 del4647	p.N258_N511delinsX	Homozygote	I5-3′region	Large rearrangement	Spanish
6 and 7	c.1001T>G	p.L334R	Homozygote	8	Missense	Chilean
8	c.1371C>A	p.Y457X	Homozygote	10	Nonsense	Moroccan
10 and 11	c.371T>C c.1402C>T	p.L124P p.R468X	Compound heterozygote	3 10	Missense Nonsense	Greek