A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.
PMID 36415369 | PMCID PMC9675415 | DOI 10.7759/cureus.30519 · Cureus · 2022 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NAGLU | “A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.” | 0.98 | hgnc_dict_v1 |
| phenotype | mucopolysaccharidosis | “A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | asthma | “In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Moreover, she suffered from hepatosplenomegaly, generalized muscular atrophy, global developmental delay, and scoliosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.” | 0.95 | saudi_context_rules_v1 |
| variant | c.889C>T | “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.” | 0.95 | hgvs_regex_v1 |
| variant | p.Arg297* | “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.” | 0.95 | hgvs_regex_v1 |