ArticleNeurology. Genetics2021
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 7 citations in OpenAlex.
- Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.Journal of neuromuscular diseases · 2026Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Identification and Characterization of Novel Founder Mutations inInternational journal of molecular sciences · 2024Article
- Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.Neurogenetics · 2022Article
- Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.Neurology. Genetics · 2022Article
- Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesBalkan medical journal · 2022Article
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Authors and funding
11 authors at 1 institution in 4 countries.
Ayşe CandayanDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.ORCID 0000-0002-3528-2293
Arman ÇakarDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.ORCID 0000-0002-8129-4172
Gulshan YunisovaDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Ayşe Nur Özdağ AcarlıDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.ORCID 0000-0002-8653-8543
Derek AtkinsonDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Pınar TopaloğluDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Hacer DurmuşDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Zuhal YapıcıDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Albena JordanovaDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.ORCID 0000-0002-3833-3754
Yeşim ParmanDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.
Esra BattaloğluDepartment of Molecular Biology and Genetics (A.C., E.B.), Boğaziçi University, Istanbul, Turkey; Neuromuscular Unit (A.Ç., G.Y., A.N.Ö.A., H.D., Y.P.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; Molecular Neurogenomics Group (D.A., A.J.), VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Belgium; Department of Epigenetics (D.A.), Max Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany; Division of Child Neurology (P.T., Z.Y.), Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey; and Molecular Medicine Center (A.J.), Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Bulgaria.ORCID 0000-0003-3131-6123
Medical University of Sofia · BG
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesInherited peripheral neuropathies (IPNs) are a group of genetic disorders of the peripheral nervous system in which neuropathy is the only or the most predominant clinical feature. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease. Autosomal recessive CMT (ARCMT) is generally more severe than dominant CMT and its genetic basis is poorly understood due to high clinical and genetic diversity. Here, we report clinical and genetic findings from 56 consanguineous Turkish families initially diagnosed with CMT disease.
methodsWe initially screened the
resultsBiallelic recurrent mutations in the DISCUSSION: This study paints a genetic landscape of the Turkish ARCMT population and reports additional candidate genes that might help enlighten the mechanism of pathogenesis of the disease.
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