Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review

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dc.contributor.authorYavaş, Cüneyd
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorÖzgör, Bilge
dc.contributor.authorAkbulut, Ekrem
dc.contributor.authorEröz, Recep
dc.date.accessioned2025-04-16T08:32:57Z
dc.date.available2025-04-16T08:32:57Z
dc.date.issued2024
dc.departmentTıp Fakültesi
dc.description.abstractBackground: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness. Method: Detailed family histories and medical data were collected. Segregation analysis was performed using Sanger sequencing and whole exome sequencing. Additionally, a review of molecularly confirmed patients was conducted. Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling programs and in-silico tools. Results: We identified a novel homozygous nonsense mutation (c.2568_2569del p.Gly857Alafs*27) in a family with a member showing neuropathy. This report details the clinical and genetic findings of the affected individuals, including a Turkish patient with neuropathy, and compares them with literature cases. Conclusion: Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our knowledge of IGHMBP2 gene defects role in neuropathy. This study aims to highlight this severe recessive disease caused by pathogenic IGHMBP2 gene mutations and to examine the mutation spectrum and phenotype differences.
dc.identifier.doi10.1016/j.braindev.2024.104313
dc.identifier.issn0387-7604 / 1872-7131
dc.identifier.issue1
dc.identifier.scopus2-s2.0-85212333145
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://dx.doi.org/10.1016/j.braindev.2024.104313
dc.identifier.urihttps://hdl.handle.net/20.500.12451/13061
dc.identifier.volume47
dc.identifier.wos001392221500001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.institutionauthorEröz, Recep
dc.language.isoen
dc.publisherElsevier B.V.
dc.relation.ispartofBrain and Development
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCMT2S
dc.subjectGenotype-phenotype
dc.subjectIGHMBP2
dc.subjectNovel Mutation
dc.subjectSMARD1
dc.titleNovel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review
dc.typeArticle

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