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Becker’s myotonia: novel mutations and clinical variability in patients born to consanguineous parents

Acta Neurologica Belgica volume 118, pages 567–572 (2018)Cite this article

Abstract

Myotonia congenita is an inherited muscle disease present from childhood that is characterized by impaired muscle relaxation after contraction resulting in muscle stiffness; moreover, skeletal striated muscle groups may be involved. Myotonia congenita occurs due to chloride (Cl) channel mutations that reduce the stabilizing Cl conductance, and it is caused by mutations in the CLCN1 gene. This paper describes four patients from two different healthy consanguineous Turkish families with muscle stiffness and easy fatigability. A genetic investigation was performed. Mutation analyses showed a homozygous p.Tyr150* (c.450C > A) mutation in patients 1, 2 and 3 and a homozygous p.Leu159Cysfs*11 (c.475delC) mutation in patient 4 in the CLCN1 gene. These mutations have never been reported before and in silico analyses showed that the mutations were disease causing. They may be predicted to cause nonsense-mediated mRNA decay. Our data expand the spectrum of CLCN1 mutations and provide insights for genotype–phenotype correlations of myotonia congenita.

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Affiliations

  1. Department of Medical Genetics, Ataturk University School of Medicine, 25240, Erzurum, Turkey

    Ibrahim Sahin, Haktan B. Erdem & Abdulgani Tatar

  2. Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey

    Ibrahim Sahin & Haktan B. Erdem

  3. Department of Pediatric Neurology, Ataturk University School of Medicine, Erzurum, Turkey

    Huseyin Tan

Authors
  1. Ibrahim Sahin
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  2. Haktan B. Erdem
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  3. Huseyin Tan
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  4. Abdulgani Tatar
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Correspondence to Ibrahim Sahin.

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The authors declare that there is no conflict of interest.

Ethical statement

We confirm that we have read the journal’s position on issues involved in ethical publication and we affirm that this report is consistent with those guidelines. The study was approved by the Ethics Committee of Ataturk University and informed consent was obtained from the patients or their parents (mentioned within “Genetic Testing”).

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Consent, for the publication of the case reports and any additional related information, was taken from the patient or their parents involved in the study.

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Sahin, I., Erdem, H.B., Tan, H. et al. Becker’s myotonia: novel mutations and clinical variability in patients born to consanguineous parents. Acta Neurol Belg 118, 567–572 (2018). https://doi.org/10.1007/s13760-018-0893-0

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  • DOI: https://doi.org/10.1007/s13760-018-0893-0

Keywords

  • Becker’s myotonia
  • Thomsen’s myotonia
  • Myotonia congenita
  • Novel mutation
  • CLCN1
  • Consanguineous