Table 3. Correlation between the effect of GAA mutations on the splicing process and the clinical phenotype.

Mutation	Clinical phenotype	Effect on RNA level (when available)	Reference
c.-32-3C>A	I	Exon skipping	40
c.692+1G>C	I	r.0	33
c.1194+2T>C	I	Intron retention	34
c.1195-2A>G	I		45
c.1326+1G>A	I	r.0	36
c.1327-2A>G	I		46
c.1437+2T>C	I	Exon skipping	37
c.1437G>A	I	Normal spliced mRNA 1.2% of NC	34,35
c.1551+1G>C	I	Exon skipping	37, 38 and 39
c.1636+5G>C	I	Intron retention	40
c.1755-1G>A	I		39
c.2040G>A	I	Intron retention	41
c.2041-2A>C	I	Skipping 6 nt at 5′ exon 15	29
c.2331+2T>C	I	Skipping 16 nt exon16	42
c.2646+2T>A	I		44
c.-32-13T>G	LO	Normal spliced mRNA reduced with respect to NC	38
c.546G>A	LO	Normal spliced mRNA 6.3% of NC	29
c.546G>T	LO	Normal spliced mRNA reduced with respect to NC	31
c.1076-22T>G	LO	Exon skipping	49,50
c.1552-3C>G	LO	Normal spliced mRNA 8.3% of NC	43
c.1626C>G	LO		33
c.1636+5G>T	LO	Normal spliced mRNA 13.7% of NC	34
c.2331+4A>G	LO	Normal spliced mRNA 3.6% of NC	43
c.546G>C	LO (in association with c.-32-13T>G)		30
c.546+1G>T	LO (in association with c.-32-13T>G)		32
c.1076-1G>C	LO (in association with c.-32-13T>G)	Retention 79 nt intron 6 and 89 nt intron 7	30,33
c.1194+2T>A	LO (in association with c.-32-13T>G)		35
c.2646_2646+1delTG	LO (in association with c.-32-13T>G)		3333

Abbreviations: I, infantile phenotype; LO, late-onset phenotype; NC, normal control; r.0, mutant transcript non-detected in vivo.