Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy

Wiktoria Radziwonik-Frączyk; Ewelina Elert-Dobkowska; Jolanta Kubalska; Iwona Stępniak; Marta Lipowska; Anna Potulska-Chromik; Anna Sułek

doi:10.5114/ppn.2024.141382

eISSN: 2720-5371
ISSN: 1230-2813

Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii

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2/2024
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abstract:

Case report

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy

Wiktoria Radziwonik-Frączyk

¹

,

Ewelina Elert-Dobkowska

¹

,

Jolanta Kubalska

¹

,

Iwona Stępniak

¹

,

Marta Lipowska

²

,

Anna Potulska-Chromik

²

,

Anna Sułek

³

Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Faculty of Medicine, Lazarski University, Warsaw, Poland

Adv Psychiatry Neurol 2024; 33 (2): 109–114

DOI: https://doi.org/10.5114/ppn.2024.141382

Online publish date: 2024/07/24

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AMA

Radziwonik-Frączyk W, Elert-Dobkowska E, Kubalska J, et al. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii. 2024;33(2):109-114. doi:10.5114/ppn.2024.141382.

APA

Radziwonik-Frączyk, W., Elert-Dobkowska, E., Kubalska, J., Stępniak, I., Lipowska, M.,  & Potulska-Chromik, A. et al. (2024). Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, 33(2), 109-114. https://doi.org/10.5114/ppn.2024.141382

Chicago

Radziwonik-Frączyk, Wiktoria, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik,  and Anna Sułek. 2024. "Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy". Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii 33 (2): 109-114. doi:10.5114/ppn.2024.141382.

Harvard

Radziwonik-Frączyk, W., Elert-Dobkowska, E., Kubalska, J., Stępniak, I., Lipowska, M., Potulska-Chromik, A.,  and Sułek, A. (2024). Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, 33(2), pp.109-114. https://doi.org/10.5114/ppn.2024.141382

MLA

Radziwonik-Frączyk, Wiktoria et al. "Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy." Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii, vol. 33, no. 2, 2024, pp. 109-114. doi:10.5114/ppn.2024.141382.

Vancouver

Radziwonik-Frączyk W, Elert-Dobkowska E, Kubalska J, Stępniak I, Lipowska M, Potulska-Chromik A et al. Co-occurrence of CAPN3 homozygous mutation and CCTG expansion 
in the CNBP gene in a patient 
with muscular dystrophy. Advances in Psychiatry and Neurology/Postępy Psychiatrii i Neurologii. 2024;33(2):109-114. doi:10.5114/ppn.2024.141382.

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Purpose
Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous CAPN3 mutation and a CCTG expansion in the CNBP gene, which suggests the co-occurrence of two diseases in a single patient.

Case description
Homozygous pathogenic variant c.550delA (p.Thr184ArgfsTer36) in the CAPN3 gene, as well as a heterozygous expansion of a CCTG repeat of the CNBP gene, were identified in a single patient. Segregation analysis showed both maternal and paternal heterozygous carriers for CAPN3 mutation, and a maternally inherited CNBP expansion.

Comment
In general, the co-occurrence of two diseases in a single patient is considered as uncommon, although possible, and therefore it should be taken into consideration in the populations with a relatively high prevalence of myotonic dystrophy type 2.

keywords:

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy

Wiktoria Radziwonik-Frączyk 1 , Ewelina Elert-Dobkowska 1 , Jolanta Kubalska 1 , Iwona Stępniak 1 , Marta Lipowska 2 , Anna Potulska-Chromik 2 , Anna Sułek 3

CAPN3, next-generation sequencing, myotonic dystrophy, muscular dystrophies, CNBP

Wiktoria Radziwonik-Frączyk

¹

,

Ewelina Elert-Dobkowska

¹

,

Jolanta Kubalska

¹

,

Iwona Stępniak

¹

,

Marta Lipowska

²

,

Anna Potulska-Chromik

²

,

Anna Sułek

³