Table 1.

Mutations in the PMM2 gene in Iberian (Spanish and Portuguese) PMM2-CDG-Ia patients

Exon/intron	Base change	Amino acid change	N° alleles, Spain (prevalence %)	N° alleles, Portugal (prevalence %)	Geographical origina	Reference
1	c.1 A > G	p.M1V	1 (1.16)		ES	Perez-Duenas et al. (2009)
2	c.95TA > GC	p.L32R	1 (1.16)		AUS, CAN, ES, F, I	Matthijs (2000), Vega et al. (2009)
2	c.131 T > C	p.V44A	6 (6.97)		EC, ES	Matthijs et al. (1999), Briones et al. (2002)
3	c.191A > G	p.Y64C	3 (3.48)		ES	Briones et al. (2002)
3	c.193 G > T	p.D65Y	6 (6.97)	6 (20.0)	ES, F (Portuguese), PT	Matthijs et al. (1999), Briones et al. (2002), Quelhas et al. (2007)
3	c.227A > G	p.Y76C	1 (1.16)		ES	Matthijs et al. (2000), Briones et al. (2002)
In 3	c.255 + 2 T > C (IVS3 + 2 T > C)	Splice variant	1 (1.16)		D, ES	Matthijs et al. (1999), Briones et al. (2002)
In 3	c.256-1 G > C (IVS3-1 G > C)	p.Val60GlyfsX11	1 (1.16)		ES	Vega et al. (2009)
4	c.278A > C	p.E93A	1 (1.16)		ES	Briones et al. (2002)
4	c. 305A > G	p.Y102C	1 (1.16)		ES	In this study
4	c.338 C > T	p.P113L	6 (6.97)	1 (3.33)	AU, B, D, ES, F, NL, PL, PT, S, USA, JP	Matthijs et al. (1997), Briones et al. (2002)
5	c.353 C > T	p.T118S	1(1.16)		ES	In this study
5	c.367 C > T	p.R123X	1 (1.16)	1 (3.33)	ES, PT	Matthijs et al. (2000), Briones et al. (2002), Quelhas et al. (2007)
5	c.368 G > A	p.R123Q	5 (5.81)	3 (10.0)	AU, ES, F, I, NL, PT, S, USA	Matthijs et al. (1999), Briones et al. (2002), Quelhas et al. (2007)
5	c.385 G > A	p.V129M	3 (3.48)		CAN, ES, F, I, TK, USA	Matthijs et al. (1997), Briones et al. (2002)
5	c.422 G > A	p.R141H	17 (19.76)	7 (23.33)	AR, AU, AUS, B, CAN, CH, Czech, D, DK, EC, ES, F, I, IR, N, NL, PE, PT, S, UK, USA	Matthijs et al. (1997), Briones et al. (2002), Quelhas et al. (2007)
6	c.458 T > C	p.I153T	1 (1.16)	1 (3.33)	ES, F, PT, USA	Matthijs et al. (2000), Briones et al. (2002)
6	c.470 T > C	p.F157S	4 (4.65)	2 (6.66)	D, ES, F, I, PL, PT, USA	Matthijs et al. (1999), Briones et al. (2002), Quelhas et al. (2007)
6	c.484 C > T	p.R162W	2 (2.32)	3 (10.0)	B, ES, F, NL, PT, UK	Matthijs et al. (1997), Briones et al. (2002), Quelhas et al. (2007)
7	c.548 T > C	p.F183S	1 (1.16)		D, ES, S, UK	Matthijs et al. (2000), Briones et al. (2002)
7	c.550 C > A	p.P184T	1 (1.16)		ES	In this study
7	c.620 T > C	p.F207S	3 (3.48)		ES	Briones et al. (2002)
7	c.626 A > G	p.D209G	1 (1.16)		ES	In this study
In 7	c.640-9 T > G (IVS7-9 T > G)	p.Pro213_Gly214ins 23	2 (2.38)		ES	Vega et al. (2009)
8	c.647A > T	p.N216I	1 (1.16)		ES, Gr, I	Matthijs et al. (1997), Briones et al. (2002)
8	c.677 C > G	p.T226S	2 (2.32)	1 (3.33)	ES, F, PT	Matthijs et al. (2000), Briones et al. (2002), Quelhas et al. (2007)
8	c.691 G > A	p.V231M		3 (10.0)	AR, AU, B, CAN, D, F, I, PE, PT, S, UK, USA	Matthijs et al. (1997), Quelhas et al. (2007)
8	c.710 C > T	p.T237M	9 (10.465)		CAN, ES, F, I, IR, UK, USA	Matthijs et al. (1997), Briones et al. (2002)
8	c.722 G > C	p.C241S	4 (4.65)	1 (3.33)	B, ES, F, I, NL, PT, USA	Matthijs et al. (1999), Briones et al. (2002), Quelhas et al. (2007)
8	Alu retrotransposition-mediated deletion of 28 kb	Loss of exon 8	1 (1.16)		ES	Schollen et al. (2007b)

Mutations in bold are reported for the first time in this article. Changes p.T118S and p.P184T are located on the same allele

86 Spanish alleles (43 patients) and 30 Portuguese alleles (15 patients) were studied. All Spanish mutant alleles were identified and in one Portuguese allele (3.33%) the mutation remains unidentified

Aus Australia, AU Austria, AR Arab origin, B Belgium, CAN Canada, CH Switzerland, Czech Czech republic, D Germany, DK Denmark, EC Ecuador, ES Spain, F France, GR Greece, I Italy, IR Ireland, JP Japan, N Norway, NL the Netherlands, PE Peru, PL Poland, PT Portugal, S Sweden, TK Turkey, UK United kingdom, USA United States of America

^aInformation on geographical origin of mutations was obtained from database of Euroglycanet web: http://www.euroglycanet.org