Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BMC Medical Genetics

Table 3 GAA enzyme activity and mutations of 12 patients with IOPD

Patient	GAA activity^a (% of normal)	Nucleotide changes	Exons	Effects on coding protein	GAA domains	Inheritance	References (ClinVar accession number)
1	0	c.876C>G	5	p.Tyr292X^b	N-terminal β-sheet	FA	This report (SCV000925966)
1	0	c.1003G>A	6	p.Gly335Arg	N-terminal β-sheet	MO	Kroos et al .[12]
2	0	c.1935C>A	14	p.Asp645Glu	Catalytic GH31	FA	Hermans et al .[13]
2	0	c.1933G>C	14	p.Asp645His	Catalytic GH31	MO	Lin&Shieh [15]
3	0	c.1099T>C	7	p.Trp367Arg	Catalytic GH31	FA	Palmer et al. [16]
3	0	c.1942G>A	14	p.Gly648Ser	Catalytic GH31	MO	Huie et al .[17]
4	0	c.1226insG	8	p.Asp409GlyfsX95	Catalytic GH31	FA	This report (SCV000925969)
4	0	c.2024_2026delACA	14	p.Asn675del	Catalytic GH31	MO	Wan et al. [18]
5	0	c.1538A>G (hom)	10	p.Asp513Gly	Catalytic GH31	MO, FA	This report (SCV000925967)
6	0.43	c.781G>A (hom)	4	p.Ala261Thr	N-terminal β-sheet	MO, FA	ClinVar (SCV000925965)
7	0.05	c.1411_1414delGAGA	9	p.Glu471fsX5	Catalytic GH31	MO	Wan et al. [18]
7	0.05	c.1933 G>C	14	p.Asp645His	Catalytic GH31	FA	Lin&Shieh [15]
8	1.46	c.877G>A (hom)	5	p.Gly293Arg	N-terminal β-sheet	MO, FA	Hermans et al. [13]
9	NA	c.1941C>G (hom)	14	p.Cys647Trp	Catalytic GH31	MO, FA	Huie et al. [17]
10	NA	c.876C>G (hom)	5	p.Tyr292X	N-terminal β-sheet	MO, FA	This report (SCV000925966)
11	NA	c.1895T>G (hom)	14	p.Leu632Arg^c	Catalytic GH31	MO, FA	This report (SCV000925968)
12	0.10	c.1327-2A>G	IVS8	Splicing	-	MO	Kroos et al. [11]
12	0.10	c.1437G>C	9	p.Lys479Asn	Catalytic GH31	FA	Wan et al. [18]

^aThe activity is expressed as a percent relative to normal control (glucose/hr/mg protein); ^bthe mutation creates a BfaI restriction site; ^cthe mutant creates SfcI restriction site. PCR-restriction digest with respective enzyme revealed no mutation in 50 healthy control. IOPD infantile-onset Pompe disease, NA not available. Hom is homozygous mutation and FA and MO mean father and mother, respectively

ISSN: 1471-2350