A novel pathological arsb mutation (c.870G>A; p.Trp290stop) in mucopolysaccharidosis type VI patients

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dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077en_US
dc.authoridMurat Büyükdoğan / 0000-0001-7948-0235
dc.authorscopusidVeysel Sabri Hançer / 6506533543
dc.authorscopusidMurat Büyükdoğan / 35247676100
dc.authorwosidVeysel Sabri Hançer / X-8971-2018
dc.authorwosidMurat Büyükdoğan / Y-2855-2018
dc.contributor.authorHançer, Veysel Sabri
dc.contributor.authorBüyükdoğan, Murat
dc.contributor.authorBabameto-Laku, Anila
dc.date.accessioned2020-08-30T20:06:28Z
dc.date.available2020-08-30T20:06:28Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.description.abstractMucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness varies according to the residual enzyme activity. Typical features are a short stature, shortened trunk, protuberant abdomen, flexed-knee stance, arched back, corneal clouding, joint stiffness and contractures as well as a waddling gait. Patients typically have Hurler-like dysmorphic facial features: microcephaly, prominent forehead and eyes, a broad nose, low nasal bridge, thick lips, and hyperplastic gums with widely spaced teeth. Complications of the illness include obstructive airway, cardiac valvular problems, splenomegaly, hernias, and pneumonia. Unlike other MPS diseases, MPS VI is characterized by normal intellectual development. Since the disease is due to deficient glycosaminoglycan (mucopolysaccharide) metabolism, elevated urinary glycosaminoglycan levels are a main indicator of MPS. Diagnosis is confirmed by enzyme assays, specifically low arylsulfatase B activity in conjunction with the normal activity of other lysosomal enzymes. Enzyme replacement therapy and hematopoietic stem cell therapy are showing positive results in the management of the condition. The more severely affected patients, with a rapidly advancing form of the disease, have a short life span and succumb, most commonly to heart failure, by early adulthood. The frequency of ARSB variants in patients with MPS VI are as follows: 59.5% missense, 13.5% small deletions, 12% nonsense, 5% splice site or intronic variants, 3% small duplications, 3% large deletions, and 1% stop-loss. We report an Albanian family with siblings diagnosed with MPS Vl after clinical examination, biochemical tests, and molecular analysis. Hereby, a novel c.870G>A nonsense homozygous mutation was found responsible for the loss of the enzyme activity.en_US
dc.identifier.citationHancer, V. S., Buyukdogan, M., & Babameto-Laku, A. (2019). A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients. MOLECULAR SYNDROMOLOGY, 10(5), 272–275. https://doi.org/10.1159/000502597en_US
dc.identifier.doi10.1159/000502597en_US
dc.identifier.endpage275en_US
dc.identifier.issn1661-8769en_US
dc.identifier.issn1661-8777en_US
dc.identifier.issue5en_US
dc.identifier.pmid32021598en_US
dc.identifier.scopus2-s2.0-85072061629en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage272en_US
dc.identifier.urihttps://doi.org/10.1159/000502597
dc.identifier.urihttps://hdl.handle.net/20.500.12713/526
dc.identifier.volume10en_US
dc.identifier.wosWOS:000498634400005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHançer, Veysel Sabrien_US
dc.institutionauthorBüyükdoğan, Muraten_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectArsben_US
dc.subjectC.870G>Aen_US
dc.subjectMucopolysaccharidosis Type Vien_US
dc.subjectMutationen_US
dc.titleA novel pathological arsb mutation (c.870G>A; p.Trp290stop) in mucopolysaccharidosis type VI patientsen_US
dc.typeArticleen_US

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