ArticleCureus2022
A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 0 citations in OpenAlex.
- Molecular Modeling of N-Acetylglucosamine Binding to the I154R Mutant of NAGLU: Pathogenic Insights into Sanfilippo Syndrome Type B.International journal of molecular sciences · 2026Article
- A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.Iranian journal of pathology · 2026Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation. She had coarse facial features, thick eyebrows, deep-seated eyes, thinning coarse hair, and macrocephaly. Moreover, she suffered from hepatosplenomegaly, generalized muscular atrophy, global developmental delay, and scoliosis. Urinary glycosaminoglycans (GAGs) were within normal limits. Full genetic testing confirmed the diagnosis of Sanfilippo syndrome type B with a deficiency of alpha-N-acetylglucosaminidase caused by a homozygous mutation c.889C>T, p.(Arg297*) in the NAGLU (N-acetyl-alpha-glucosaminidase) gene. Chromosomal microarray analysis (CMA) showed a copy number variant (CNV) within the 1q24 region. Thus far, CNVs similar in size and position have not been reported in the literature, making this a novel mutation.
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Registered trials
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