Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

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dc.contributor.authorOzkinay F.
dc.contributor.authorEmecen D.A.
dc.contributor.authorKose M.
dc.contributor.authorIsik E.
dc.contributor.authorBozaci A.E.
dc.contributor.authorCanda E.
dc.contributor.authorOnay H.
dc.date.accessioned2021-05-03T20:56:53Z
dc.date.available2021-05-03T20:56:53Z
dc.date.issued2021
dc.description.abstractAim: Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes the lysosomal enzyme alpha-N-acetylglucosaminidase. The major symptoms of the disease are cognitive and neurological defects. In this study, the molecular spectrums of 13 MPS IIIB patients were evaluated. Material and methods: Thirteen MPS IIIB patients from 11 families were included in this study. All patients were both clinically and molecularly diagnosed. NAGLU gene sequencing was performed using a next generation sequencing platform (Illumina MiSeq). Demographic, clinical and laboratory findings of the patients were obtained via the hospital records. Results: Ten different mutations from the 13 MPS IIIB patients were identified. Eight of the 10 mutations were missense, one was splice site, and one large deletion was also observed. Two mutations c.509G>T (p.Gly170Val) and c.700C>G (p.Arg234Gly) have been defined for the first time in this study. Conclusion: Our study expanded the mutation spectrum of the NAGLU gene thereby contributing to the improved genetic counselling of MPS IIIB patients. Confirming the literature, missense mutations were also found to be the most common NAGLU mutations in our study. © 2021en_US
dc.identifier.doi10.1016/j.ymgmr.2021.100732
dc.identifier.issn2214-4269
dc.identifier.issn2214-4269en_US
dc.identifier.scopus2-s2.0-85102246386en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1016/j.ymgmr.2021.100732
dc.identifier.urihttps://hdl.handle.net/11454/71408
dc.identifier.volume27en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherElsevier Inc.en_US
dc.relation.ispartofMolecular Genetics and Metabolism Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMucopolysaccaridosisen_US
dc.subjectNAGLUen_US
dc.subjectSanflippo syndromeen_US
dc.titleClinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutationsen_US
dc.typeArticleen_US

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