The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

Nijmeijer, Stephanie C. M.; van den Born, L. Ingeborg; Kievit, Anneke J. A.; Stepien, Karolina M.; Langendonk, Janneke; Marchal, Jan Pieter; Roosing, Susanne; Wijburg, Frits A.; Wagenmakers, Margreet A. E. M.

doi:10.1186/s13023-019-1232-0

Orphanet Journal of Rare Diseases

Table 1 MPS III patients with a mild- or non-neuropathic phenotype

From: The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

ID	Age at Diagnosis (years)	Current Age (years)	Symptom leading to diagnostic studies	MPS III Subtype ^a	Mutation 1	Protein 1	Mutation 2	Protein 2	Enzyme Activity	Reference Range (nmol/mg.17 h)	Material	Urinary GAGs	Reference Range (mg/mmol creatinine)	Age at Decline (years)
1.1	64	65	RD	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0.1	3–12	Leucocytes	HS: 110.5	0–7.6
2.1	56	56	Family screening	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0.1	3–12	Leucocytes	HS: 100	0–7.6
3.1	62	62	Family screening	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0	3–12	Leucocytes	HS: 10.1	0–7.6
4.1	51	52	Family screening	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0	3–12	Leucocytes	HS: 52.9	0–7.6
5.1	53	54	Family screening	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0.1	3–12	Leucocytes	HS: 70.9	0–7.6
6.2	5	21	Family screening	A	c.892 T > C	p.(Ser298Pro)	c.1262C > G	p.(Thr421Arg)	0.1	4.1–10.7	Leucocytes	Total: 28	1–8
7.2	3	19	Family screening	A	c.892 T > C	p.(Ser298Pro)	c.1262C > G	p.(Thr421Arg)	0.1	4.1–10.7	Leucocytes	Total: 23	5–15
8.3	49	50	RD	A	c.1130G > A	p.(Arg377His)	c.545G > A	p.(Arg182His)	0.2	3–12	Leucocytes	HS: 134.6	0–7.6
9.3	41	41	Family screening	A	c.1130G > A	p.(Arg377His)	c.545G > A	p.(Arg182His)	0	3–12	Leucocytes	HS: 25.1	0–7.6
10.4	27	32	Family screening	B	c.1927C > T	p.(Arg643Cys)	c.1834A > G	p.(Ser612Gly)	0.0	0.70–2.60^b	Leucocytes	HS: 6125	0–343	32
11.5	41	42	Sudden decline in neurocognitive functioning	A	c.220C > T	p.(Arg74Cys)	c.1063G > A	p.(Glu355Lys)	0.2	3.2–20	Leucocytes	Total: 13.6	0–8	41
12.6	68	74	HCM	A	c.734G > A	p.(Arg245His)	c.545G > A	p.(Arg182His)	0.2	20–90	Fibroblasts	Total: 19.7	0–5.2
Cases from literature
1 [16]	53	NK	Cardiomyopathy	A	NK	NK	NK	NK	0.6	1.1 – 12^c	Leucocytes	Total: 5.3	2.4–4.8
2 [17]	42	NK	Retinitis pigmentosa + dementia	C	NK	NK	NK	NK	4.1	13–46	Leucocytes	↑	NK	NK
3 [17]	46	NK	Retinitis pigmentosa + dementia	C	NK	NK	NK	NK	1.4	13–46	Leucocytes	↑	NK	NK

Abbreviations: GAGs glycosaminoglycans; HCM hypertrophic cardiomyopathy; HS heparan sulfate; NK not known; RD retinital dystrophy; ↑ increased heparan sulfate.
ID = This column depicts twelve patients (numbers 1–12 before the punctuation) from six different families (numbers 1–6 after the punctuation).
^a Gene per subtype = Type A: SGSH; type B: NAGLU; type C: HGSNAT.
^b Enzyme activity reference range is in nmol/mg.hr.
^c Enzyme activity reference range is in pmol/min/mg

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com