Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

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dc.authorid0000-0001-8042-4361en_US
dc.authorid0000-0002-9802-2683en_US
dc.authorid0000-0002-5320-9807en_US
dc.authorid0000-0002-5324-9155en_US
dc.contributor.authorLischka, Annette
dc.contributor.authorEggermann, Katja
dc.contributor.authorRecord, Christopher J.
dc.contributor.authorDohrn, Maike F.
dc.contributor.authorLaššuthová, Petra
dc.contributor.authorKraft, Florian
dc.contributor.authorBolgül, Behiye Sezgin
dc.date.accessioned2024-03-21T08:36:52Z
dc.date.available2024-03-21T08:36:52Z
dc.date.issued2023en_US
dc.departmentDicle Üniversitesi, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Bölümüen_US
dc.description.abstractCongenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.en_US
dc.identifier.citationLischka, A., Eggermann, K., Record, C. J., Dohrn, M. F., Laššuthová, P., Kraft, F. ve diğerleri.(2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : A Journal of Neurology, 146(12), 4880-4890.en_US
dc.identifier.doi10.1093/brain/awad328
dc.identifier.endpage4890en_US
dc.identifier.issn1460-2156
dc.identifier.issue12en_US
dc.identifier.pmid37769650
dc.identifier.scopus2-s2.0-85178657182
dc.identifier.scopusqualityQ1
dc.identifier.startpage4880en_US
dc.identifier.urihttps://watermark.silverchair.com/awad328.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAA2gwggNkBgkqhkiG9w0BBwagggNVMIIDUQIBADCCA0oGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMfWK_l9EQbbxjpu0aAgEQgIIDG9WX
dc.identifier.urihttps://hdl.handle.net/11468/13668
dc.identifier.volume146en_US
dc.identifier.wosWOS:001098172300001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBolgül, Behiye Sezgin
dc.language.isoenen_US
dc.relation.ispartofBrain : A Journal of Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCIPen_US
dc.subjectGeneticsen_US
dc.subjectHSANen_US
dc.subjectHSNen_US
dc.subjectNeuropathiesen_US
dc.subjectPainen_US
dc.titleGenetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesen_US
dc.titleGenetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
dc.typeArticleen_US

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