Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry

Table 3 Epidemiology characteristic of 20 Russian mucopolysaccharidosis type II patients who died between 2016-2022

ID	Year of the death	Death age, year	Cause of death	SNP/Rearrangements	Protein	Exon/9	Type of nucleotide change	Significance of variant	Normalized enzyme activity, %	Age of first symptoms, year	Age of diagnosis, year	ERT	Age of start ERT, year	MPS form, mild/severe
46	2020	18	CVF	c.253G > A	p.Ala85Thr	3	ms	Pathogenic	N/A	2	8	Yes	10	Mild
58	2019	10	Pneumonia	c.1295G > A	p.Cys432Tyr	9	ms	LP	N/A	0	5	Yes	6	N/A
65	2020	21	MPS	c.196C > T	p.Gln66Ter	2	ns	Pathogenic	15	0	5	Yes	13	Severe
71	2016	21	Acute CVF	c.257C > T	p.Pro86 Leu	3	ms	LP	7.6	N/A	6	No	N/A	Mild
72	2020	14	Acute CVF	c.1403G > A	p.Arg468Gln	9	ms	Pathogenic	N/A	N/A	4	Yes	4	Severe
92	2021	11	N/A	c.133G > T	p.Asp45Tyr	2	ms	LP	3.8	1	5	Yes	7	Severe
93	2019	20	RF, renal failure	c.395C > G	p.Ser132Trp	3	ms	LP	0.1	2	4	Yes	11	Severe
96	2022	13	CVF, dilated cardiomyopathy	c.262C > T	p.Arg88Cys	3	ms	Pathogenic	0	0	3	Yes	5	Severe
104	2019	15	Pneumonia	N/A	N/A	N/A	N/A	N/A	0	3	5	Yes	7	Severe
106	2020	13	N/A	Recombination between intron 7 of the IDS gene and the distal part of exon 3 of the IDSP1 pseudogene, with deletion of exons 1-3 of the IDS gene	N/A	N/A	N/A	Pathogenic	0	2	2	Yes	7	Severe
109	2022	20	CVF	Recombination between intron 7 of the IDS gene and the distal part of exon 3 of the IDSP1 pseudogene, without deletion	N/A	N/A	N/A	Pathogenic	9.1	1	11	Yes	12	Severe
110	2018	43	Chronic obstructive pulmonary disease. Pneumonia	c.1037C > T	p.Ala346Val	8	ms	LP	0	N/A	20	No	N/A	Mild
111	2022	22	MPS	c.133delG	p.Asp45Metfs*15	2	ms	Pathogenic	NA	1	5	Yes	11	Severe
113	2017	15	CVF	Recombination between intron 7 of the IDS gene and the distal part of exon 3 of the IDSP1 pseudogene, without deletion	N/A	N/A	N/A	Pathogenic	0.43	2	3	N/A	N/A	N/A
116	2018	10	CVF	N/A	N/A	N/A	N/A	N/A	0.01	0	6	Yes	6	Severe
120	2017	41	CVF	N/A	N/A	N/A	N/A	N/A	1.8	8	38	Yes	39	Mild
124	2022	18	Viral infection	c.1340T > A	p.Leu447Term	9	ns	Pathogenic	0	5	6	Yes	8	Severe
144	2018	9	N/A	Del exon 1-7	N/A	N/A	N/A	Pathogenic	0.002		4	No		Severe
147	2016	21	RF	c.1034G > C	p.Trp345Ser	8	ms	Pathogenic	0.66	1	11	Yes	17	Mild
149	2017	12	RF	c.1006G > C	p.Gly336Arg	7	ms	Pathogenic	0.42	0	5	Yes	7	Severe

CVF: Cardiovascular failure; ERT: Enzyme replacement therapy; N/A: Not applicable; LP: Likely pathogenic; ms: Missense; ns: Nonsense; MPS: Mucopolysaccharidosis; RF: Respiratory failure; SNP: Single nucleotide polymorphism.