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.authorYavas, Cuneyd
dc.contributor.authorDogan, Mustafa
dc.contributor.authorOzgor, Bilge
dc.contributor.authorAkbulut, Ekrem
dc.contributor.authorEroz, Recep
dc.date.accessioned2026-04-04T13:35:12Z
dc.date.available2026-04-04T13:35:12Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
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
dc.identifier.issn1872-7131
dc.identifier.issue1
dc.identifier.orcid0000-0002-7526-9835
dc.identifier.pmid39705914
dc.identifier.scopus2-s2.0-85212333145
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2024.104313
dc.identifier.urihttps://hdl.handle.net/11616/109692
dc.identifier.volume47
dc.identifier.wosWOS:001392221500001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofBrain & Development
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250329
dc.subjectCMT2S
dc.subjectSMARD1
dc.subjectGenotype-phenotype
dc.subjectIGHMBP2
dc.subjectNovel mutation
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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