Abstract
Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
- 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
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
CAPN3, next-generation sequencing, myotonic dystrophy, muscular dystrophies, CNBP
Coverage in
Indexed in
Integrated with
