ReviewBMC pediatrics2026
Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.
Review in BMC pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo highlight the mutations of the iduronate-2-sulfatase (IDS) gene in one family with different origins. CASE PRESENTATION: The proband (case 1) was a 4-year and 7-month-old boy who presented for "inability to fully extend his fingers for over 2 years". His developmental milestones were unremarkable. However, his fingers could not be extended straight when he was about 2 years old. Snoring was also reported. Physical examination showed dense eyebrows and hair, macrocephaly, coarse facial features, a collapsed nose bridge, hypertelorism, big ears, full lips, a short neck, a lot of Mongolian spots, hypertrichosis, short fingers, and joint contracture in fingers. X-ray showed dysostosis multiplex and brain magnetic resonance showed enlarged ventricles and widened sulci. A high ratio of urea glycosaminoglycans and creatinine (GAGs/Cr) and decreased activity of iduronate-2-sulfatase (IDS) were found. Whole exome sequencing (WES) revealed a hemizygous c.593 A > C (p.D198A) variant of the IDS gene originated from his mother. Furthermore, high urea GAGs/Cr, decreased activity of IDS, and a similar mutation were also noted in his younger brother (case 2, 1.5 years old), who had slight coarse facies and a lot of Mongolian spots. Moreover, the MPS II screen found that a distantly related cousin of case 1 (case 3, 7-month-old) had high urea GAGs/Cr and decreased activity of IDS. It was notable that WES analysis revealed a novel hemizygous c.1403G > A (p.Arg468Gln) variant in the IDS gene, which was de novo and distinct from cases 1 and 2.
conclusionIn children with coarse faces, joint contracture, Mongolian spots, or hirsute, MPS should be considered in the differential diagnosis. Two completely different mutations may independently exist in a family. Hence, only the known mutation verified in family members may result in a missed diagnosis, urea GAGs and IDS activity measurement may reduce this condition.
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