Current status of newborn screening for Pompe disease in Japan

Sawada, Takaaki; Kido, Jun; Sugawara, Keishin; Momosaki, Ken; Yoshida, Shinichiro; Kojima-Ishii, Kanako; Inoue, Takahito; Matsumoto, Shirou; Endo, Fumio; Ohga, Shouichi; Hirose, Shinichi; Nakamura, Kimitoshi

doi:10.1186/s13023-021-02146-z

Orphanet Journal of Rare Diseases

Table 2 Distribution of mutations or predictable pathogenic variants in each subject

From: Current status of newborn screening for Pompe disease in Japan

Variant No	Nucleotide change	Amino acid change	Subject ID
Variant No	Nucleotide change	Amino acid change	25	34	39	89	99	66	111	122	137	112	132	119	45	118	141	105	42	72	76	100	28	13	128	69	135	29	31	60	74	125	126	146	144	83	33	51	3	17	64	129
2	c.317G > A	p.R106H	○	○	○	○	○	○	○	○	○
4	c.439G > A	p.G147S										○
5	c.503G > C	p.R168P											○
6	c.538_542delCACTT	p.H180Hfs*7
7	c.546G > T	p.T182 =																	○	○	○	○
8	c.546 + 5G > T	–												○
14	c.547-27A > G	–
21	c.752C > T	p.S251L
22	c.761C > T	p.S254L
23	c.796C > T	p.P266S													○
28	c.1082 C > A	p.P361Q																					○
29	c.1124 G > A	p.R375H																						○
31	c.1170delC	p.N390Kfs*2																							○
32	c.1190C > T	p.P397L																								○
35	c.1244C > T	p.T415M
36	c.1309C > T	p.R437C																									○
37	c.1316 T > A	p.M439K																										○	○	○	○	○	○	○
43	c.1494G > A	p.W498*																																	○
46	c.1562A > T	p.E521V																																		○
50	c.1669A > T	p.I557F
51	c.1726G > A†	p.G576S	●	●	●	●	●	●	●	●	●	●	●	●	●	●	●	●	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○
52	c.1798C > T	p.R600C														○
53	c.1857C > G	p.S619R																																			○
55	c.1935C > A	p.D645E															○
56	c.2003A > G	p.Y668C
58	c.2055C > G	p.Y685*
59	c.2065G > A†	p.E689K	●	●	●	●	●	●	●	●	●	●	●	●	●	●	●	●	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○
62	c.2173C > T	p.R725W
64	c.2238G > C	p.W746C																○
71	c.2560C > T	p.R854*
72	c.2647-7G > A	–																																					○	○	○	○
	GAA activity (pmol/h/disk)	DBS	1.8	< 1.0	1.7	< 1.0	2.9	< 1.0	2.5	1.3	2.0	< 1.0	3.2	< 1.0	1.7	< 1.0	2.9	< 1.0	< 1.0	< 1.0	1.8	3.6	1.3	< 1.0	2.6	< 1.0	1.4	< 1.0	1.7	1.3	< 1.0	3.9‡	2.4	2.2	3.1	1.3	< 1.0	< 1.0	1.1	1.7	1.3	3.1
	GAA activity (pmol/h/disk)	fibroblast	5.4	18.7	6.1	ND	ND	4.9	ND	ND	ND	ND	ND	ND	8.8	ND	ND	ND	4.2	7.8	ND	2.9	9.6	23.4	ND	4.4	ND	12.6	8.3	7.7	8.7	ND	ND	ND	ND	4.7	6.5	6	5.3	27	ND	ND
	Diagnosis		Carrier or potential carrier (DBS GAA range: < 1.0–3.6)

Variant No	Nucleotide change	Amino acid change	Subject ID
Variant No	Nucleotide change	Amino acid change	5	12	23	24	26	40	56	58	59	63	71	73	79	88	96	101	109	113	124	134	139	142	143	106	8	93	87	84	127	131	133	130	140
2	c.317G > A	p.R106H																										○
4	c.439G > A	p.G147S
5	c.503G > C	p.R168P
6	c.538_542delCACTT	p.H180Hfs*7																																	○
7	c.546G > T	p.T182 =
8	c.546 + 5G > T	–
14	c.547-27A > G	–																																	○
21	c.752C > T	p.S251L	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○			○	○	○	○	●	●
22	c.761C > T	p.S254L
23	c.796C > T	p.P266S
28	c.1082 C > A	p.P361Q
29	c.1124 G > A	p.R375H
31	c.1170delC	p.N390Kfs*2
32	c.1190C > T	p.P397L
35	c.1244C > T	p.T415M																												○
36	c.1309C > T	p.R437C
37	c.1316 T > A	p.M439K
43	c.1494G > A	p.W498*
46	c.1562A > T	p.E521V
50	c.1669A > T	p.I557F																								○
51	c.1726G > A†	p.G576S	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○						○
52	c.1798C > T	p.R600C																																	○
53	c.1857C > G	p.S619R																													○
55	c.1935C > A	p.D645E
56	c.2003A > G	p.Y668C																											○
58	c.2055C > G	p.Y685*
59	c.2065G > A†	p.E689K	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	○	●	○	○						○
62	c.2173C > T	p.R725W																																○
64	c.2238G > C	p.W746C
71	c.2560C > T	p.R854*																									○
72	c.2647-7G > A	–																																○
	GAA activity (pmol/h/disk)	DBS	< 1.0	1.1	< 1.0	< 1.0	2.1	1.3	< 1.0	< 1.0	< 1.0	1.3	< 1.0	< 1.0	1.3	< 1.0	< 1.0	< 1.0	< 1.0	< 1.0	< 1.0	2.5	2.1	2.0	1.7	< 1.0	2.0	< 1.0	< 1.0	< 1.0	< 1.0	3.2	< 1.0	1.9	1.0
	GAA activity (pmol/h/disk)	Fibroblast	10	ND	ND	ND	35.1	3.7	3	8.1	7.8	ND	ND	7.6	ND	9.6	ND	ND	ND	ND	ND	ND	ND	ND	ND	14.5	38	ND	5.4	3.0	0.9	ND	ND	ND	ND
	Diagnosis		Carrier or potential carrier (DBS GAA range: < 1.0–3.6)																									Potential LOPD (DBS GAA range: < 1.0–3.2)							IOPD

DBS GAA control range: 6.6– > 205
ND, not done; †, pseudodegiciency alleles; ‡, assayed by the Ba/Zn method
●, Homozygote; ○, Heterozygote; LOPD, late-onset Pompe disease; IOPD, infantile-onset Pompe disease

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