A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous va...

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Veröffentlicht in:Clinical case reports 2018, Vol.6 (6), p.1051-1054
Hauptverfasser: Hettiarachchi, Dineshani, Nethikumara, Nilaksha, Pathirana, Bamunu Arachchi Pathiranage Sajeewani, Weththasigha, Kalum, Dissanayake, Weerabaddana Dilshani Niluka, Dissanayake, Vajira H W
Format: Report
Sprache:eng
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Zusammenfassung:Homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1521