Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

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dc.authorid0000-0001-6930-7148
dc.authorid0000-0003-1513-6149
dc.contributor.authorAyaz, Akif
dc.contributor.authorAksu Uzunhan, Tuğçe
dc.contributor.authorAydın, Kürşad
dc.date.accessioned2022-06-10T07:35:31Z
dc.date.available2022-06-10T07:35:31Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as whole-exome sequencing, clinical exome. Methods: Candidate genes were determined, since no clinically illuminating variant was detected in the whole-exome sequencing analysis of three patients, two of whom were siblings, with a complex hereditary spastic paraplegia phenotype. Results: The p.Leu1202Pro variant in the SYNRG gene in the 1st and 2nd cases, and the p.Gly533* variant in the 3rd case were homozygous. Discussion: We suggest that the SYNRG gene interacting with AP-1 (adaptor-related protein) from the AP complex family may cause the complex hereditary spastic paraplegia phenotype with extensive clinical spectrum. It may be important to evaluate SYNRG gene variants in patients with hereditary spastic paraplegia whose etiology has not been clarified.
dc.identifier.citationAyaz, A., Aksu Uzunhan, T. ve Aydın, K. (2022). Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia. Brain and Development, 44(5), 329-335. https://doi.org/10.1016/j.braindev.2022.01.002
dc.identifier.doi10.1016/j.braindev.2022.01.002
dc.identifier.endpage335
dc.identifier.issn0387-7604
dc.identifier.issn1872-7131
dc.identifier.issue5
dc.identifier.pmid35090779
dc.identifier.scopusqualityQ2
dc.identifier.startpage329
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2022.01.002
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9512
dc.identifier.volume44
dc.identifier.wos000799884100002en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAyaz, Akif
dc.institutionauthorAydın, Kürşad
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofBrain and Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectSYNRG
dc.subjectHereditary Spastic Paraplegia
dc.subjectP.Gly533*
dc.subjectP.Leu1202Pro
dc.subjectCandidate Gene
dc.subjectAP1 Complex
dc.titleInteracting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
dc.typeArticle

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