Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring

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dc.authorid0000-0001-9403-2844
dc.contributor.authorSüsgün, Seda
dc.contributor.authorYücesan, Emrah
dc.contributor.authorGöncü, Beyza
dc.contributor.authorHasanoğlu Sayın, Sevde
dc.contributor.authorKına, Ümit Yaşar
dc.contributor.authorÖzgül, Cemil
dc.contributor.authorDüzenli, Ömer Faruk
dc.contributor.authorKocatürk, Özcan
dc.contributor.authorÇalık, Mustafa
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorUğur İşeri, Sibel Aylin
dc.date.accessioned2024-05-21T05:44:48Z
dc.date.available2024-05-21T05:44:48Z
dc.date.issued2024
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Sağlık Bilim ve Teknolojileri Araştırma Enstitüsü
dc.description.abstractIntroduction: Neurodevelopmental disorders (NDDs) refer to a broad range of diseases including developmental delay, intellectual disability, epilepsy, autism spectrum disorders, and attention-deficit/hyperactivity disorder caused by dysfunctions in tightly controlled brain development. The genetic backgrounds of NDDs are quite heterogeneous; to date, recessive or dominant variations in numerous genes have been implicated. Herein, we present a large consanguineous family from Turkiye, who has been suffering from NDDs with two distinct clinical presentations. Methods and results: Combined in-depth genetic approaches led us to identify a homozygous frameshift variant in NALCN related to NDD and expansion of dodecamer repeat in CSTB related to Unverricht-Lundborg disease (ULD). Additionally, we sought to functionally analyze the NALCN variant in terms of mRNA expression level and current alteration. We have both detected a decrease in the level of premature stop codon-bearing mRNA possibly through nonsense-mediated mRNA decay mechanism and also an increased current in patch-clamp recordings for the expressed truncated protein. Conclusion: In conclusion, increased consanguinity may lead to the revealing of distinct rare neurogenetic diseases in a single family. Exome sequencing is generally considered the first-tier diagnostic test in individuals with NDD. Yet we underline the fact that customized approaches other than exome sequencing may be used as in the case of ULD to aid diagnosis and better genetic counseling.
dc.identifier.citationSüsgün, S., Yücesan, E., Göncü, B., Hasanoğlu Sayın, S., Kına, Ü. Y., Özgül, C. ... Uğur İşeri, S. A. (2024). Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring. Neurological Sciences, 45(5), 2271-2277. http://dx.doi.org/10.1007/s10072-023-07211-y
dc.identifier.doi10.1007/s10072-023-07211-y
dc.identifier.endpage2277
dc.identifier.issn1590-1874
dc.identifier.issn1590-3478
dc.identifier.issue5
dc.identifier.pmid38012464
dc.identifier.scopus2-s2.0-85178089686
dc.identifier.scopusqualityQ1
dc.identifier.startpage2271
dc.identifier.urihttp://dx.doi.org/10.1007/s10072-023-07211-y
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12482
dc.identifier.volume45
dc.identifier.wos001114777300001en_US
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÖzgül, Cemil
dc.language.isoen
dc.relation.ispartofNeurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCSTB
dc.subjectExome Sequencing
dc.subjectLinkage Analysis
dc.subjectLong PCR
dc.subjectNALCN
dc.subjectNeurodevelopmental Disorders
dc.titleTwo rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
dc.typeArticle

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