Adult phenotype and further phenotypic variability in SRD5A3-CDG

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dc.contributor.authorKara, Bülent
dc.contributor.authorAyhan, Özgecan
dc.contributor.authorGökçay, Gülden
dc.contributor.authorBaşboğaoğlu, Nurdan
dc.contributor.authorTolun, Aslıhan
dc.date.accessioned2020-04-30T22:39:01Z
dc.date.available2020-04-30T22:39:01Z
dc.date.issued2014
dc.departmentDÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.descriptionGOKCAY, GULDEN FATMA/0000-0003-3726-5726; tolun, aslihan/0000-0002-0328-6046en_US
dc.descriptionWOS: 000330069800002en_US
dc.descriptionPubMed: 24433453en_US
dc.description.abstractBackground: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating. Case presentation: We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. We found the candidate disease loci via linkage analysis using data from single nucleotide polymorphism genome scans and homozygous truncating mutation SRD5A3 p.W19X, which was previously reported in 3 unrelated children, by exome sequencing. Clinical investigations included physical and ocular examinations and blood tests. Severe ocular involvement with retinal bone spicule pigmentation and optic atrophy are the most prominent disabling clinical features of the disease. The serum transferrin isoelectric focusing (TIEF) pattern is abnormal in the patient investigated. Conclusion: Our patients are older, with later onset and milder clinical phenotypes than all patients with SRD5A3-CDG reported so far. They also have atypical ocular findings and variable phenotypes. Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG, and suggest screening for SRD5A3 mutations in new patients with at least a few of the clinical symptoms of SRD5A3-CDG.en_US
dc.description.sponsorshipBogazici University Research FundBogazici University [BAP 5708]en_US
dc.description.sponsorshipWe thank the family members for their cooperation. The genetic analyses were supported by Bogazici University Research Fund, grant number BAP 5708.en_US
dc.identifier.doi10.1186/1471-2350-15-10en_US
dc.identifier.issn1471-2350
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1186/1471-2350-15-10
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2564
dc.identifier.volume15en_US
dc.identifier.wosWOS:000330069800002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherBiomed Central Ltden_US
dc.relation.ispartofBmc Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSRD5A3en_US
dc.subjectSRD5A3en_US
dc.subjectCDGen_US
dc.subjectCDGen_US
dc.subjectGlycosylation defecten_US
dc.titleAdult phenotype and further phenotypic variability in SRD5A3-CDGen_US
dc.typeArticleen_US

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