A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene

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dc.authoridNezir Özgün / 0000-0002-0866-2004en_US
dc.authorscopusidNezir Özgün / 57190179626
dc.authorwosidNezir Özgün / GCT-0294-2022
dc.contributor.authorÖzgün, Nezir
dc.contributor.authorŞahin, Yavuz
dc.date.accessioned2021-11-26T10:42:18Z
dc.date.available2021-11-26T10:42:18Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractIntroduction: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glycosylation, involves many enzymes. Until today, type 1 and type 2 fucosylation defects were identified, having pathogenic variants in genes encoding ?-1,6-fucosyltransferase and fucokinase enzymes, respectively. In this article, a patient with type 2 fucosylation defect will be presented, with hypotonia, developmental delay and blindness and a pathogenic variant that was previously described in two patients. Method: Whole exome sequencing (WES) was performed, since the patient had no time to implement diagnostic algorithm for hypotonia etiology. Results: WES revealed a new pathogenic variant of homozygous c.993_1011del (p.Glu335Hisfs*55) frameshift variant of the FUK gene NM_145059 transcript. She had milder clinical manifestation than reported two patients. Conclusion: Congenital Defect of Glycosylation should be considered when the clinical findings cannot be explained by other known diseases, particularly in patients with multisystemic, predominantly neurological involvement.en_US
dc.identifier.citationÖzgün, N., & Şahin, Y. (2021). A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene. Brain & development, S0387-7604(21)00206-0. Advance online publication.en_US
dc.identifier.doi10.1016/j.braindev.2021.11.001en_US
dc.identifier.pmid34802815en_US
dc.identifier.scopus2-s2.0-85119433418en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2021.11.001
dc.identifier.urihttps://hdl.handle.net/20.500.12713/2280
dc.identifier.wosWOS:000752432400008en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÖzgün, Nezir
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofBrain and Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCongenital Defect of Glycosylationen_US
dc.subjectDevelopmental Delayen_US
dc.subjectHypotoniaen_US
dc.subjectType2 Fucosylation Defecten_US
dc.titleA case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK geneen_US
dc.typeArticleen_US

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