Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Germain, Dominique P.; Shabbeer, Junaid; Cotigny, Sylvie; Desnick, Robert J.

doi:10.1007/BF03402156

Molecular Medicine

Table 2 α-Gal A mutations causing Fabry disease in 40 unrelated families

From: Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Proband		Mutation	Location	Genomic Nucleotide Change	cDNA Codon Change	Age (Yr)	Origin	Phenotype
Novel mutations Missense mutations
1		G43R	Exon 1	g1306 G > C	127 GGC > CGC	22	British	Classic
2		R49G	Exon 1	g1324 C > G	145 CGC > GGC	57	French	Classic
3		M72I	Exon 2	g5115 G > A	216 ATG > ATA	61	French	Classic
4		G138E	Exon 3	g7312 G > A	413 GGA > GAA	56	German	Classic
5		L243F	Exon 5	g10220 G > C	729 TTG > TTC	37	French	Classic
6		S247C	Exon 5	g10231 C > G	740 TCT > TGT	64	French	Variant
7		D266E	Exon 5	g10289 T > A	798 GAT > GAA	31	French	Severe classic
8		W287C	Exon 6	g10569 G > T	861 TGG > TGT	29	British	Classic
9		S297C	Exon 6	g10598 C > G	890 TCT > TGT	20	Belgian	Classic
10		N355K	Exon 7	g11043 C > A	1065 AAC > AAA	16	French	Classic
11		E358G	Exon 7	g11051 A > G	1073 GAG > GGG	41	West Indian	Classic
12		P409S	Exon 7	g11203 C > T	1225 CCC > TCC	38	British	Classic
Nonsense mutations
13		W236X	Exon 5	g10198 G > A	707 TGG > TAG	32	British	Classic
14		W245X	Exon 5	g10225 G > A	734 TGG > TAG	50	French	Classic
Small deletions
15		58del15	Exon 1	g1237delGCCCTCG	58delGCCCTCG	40	Kurdish	Classic
				TTTCCTGG	TTTCCTGG
16		CTT AGA CAG*	Exon 6	g10702delA	994delA	19	Iraqi	Classic
17		AGG TTA AGA	Exon 7	g11185delT	1207delT	28	French	Classic
Small insertions
18		CCA GGG GGG	Exon 5	g10274insG	778insG	29	French	Classic
19		TTG GGG CAA	Exon 6	g10679insG	972insG	21	French	Classic
20		TTA AGC CTG	Exon 7	g11018insA	1041insA	50	British	Classic
Previously reported mutations Missense mutations
21		R49P	Exon 1	g1325 G > C	146 CGC > CCC	24	British	Classic
22		D92N	Exon 1	g5176 G > A	274 GAT > AAT	30	British	Classic
23		C94Y	Exon 1	g5180 G > C	281 TGT > TCT	13	Hispanic	Classic
24		R112C	Exon 2	g5233 C > T	334 CGC > TGC	33	French	Classic
25		R112C	Exon 2	g5233 C > T	334 CGC > TGC	47	French	Classic
26		F113S	Exon 2	g5237 T > C	338 TTT > TCT	47	British	Classic
27		G183D	Exon 4	g8321 G > A	548 GGT > GAT	31	French	Classic
28		R227Q	Exon 5	g10171 G > A	680 CGA > CAA	39	British	Classic
29		R301Q	Exon 6	g10610 G > A	902 CGA > CAA	60	French	Intermediate
30		G328R	Exon 6	g10690 G > A	982 GGG > AGG	26	Arab	Classic
31		R342Q	Exon 7	g11003 G > A	1025 CGA > CAA	33	French	Classic
32		E358K	Exon 7	g11050 G > A	1072 GAG > AAG	39	French	Classic
33		P409A	Exon 7	g11203 C > G	1225 CCC > GCC	29	British	Classic
Nonsense mutations
34		W162X	Exon 3	g7384 G > A	485 TGG > TAG	39	British	Classic
35		R220X	Exon 5	g10149 C > T	658 CGA > TGA	36	British	Classic
36		R227X	Exon 5	g10170 C > T	679 CGA > TGA	59	French	Classic
37		Q250X	Exon 5	g10239 C > T	748 CAG > TAG	53	French	Classic
38		R301X	Exon 6	g10609 C > T	901 CGA > TGA	48	French	Classic
							Canadian
Small deletions
39	AGT ATA AAG AGT		Exon 5	g10208delAA	717delAA	50	French	Classic
40	AGT ATA AAG AGT		Exon 5	g10208delAA	717delAA	20	French	Classic

*Inserted or deleted bases underlined.

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ISSN: 1528-3658

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