Affiliation:
1. Pirogov Russian National Research Medical University;
Research Center of Neurology
2. Pirogov Russian National Research Medical University
3. Genomed
4. Research Center of Neurology
5. St. Luka’s Clinical Research Center for Children;
Pirogov Russian National Research Medical University
Abstract
Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case of a rare form of congenital muscular dystrophia associated with a homozygous mutation in the TRIP4 gene in a patient with respiratory failure requiring respiratory support, neurological symptoms, muscular hypotonia, and multiple congenital malformations of skeletal system is presented for the first time in Russia. The undescribed pathogenic homozygous variant of the nucleotide sequence in the TRIP4 gene (chr15:64686179, c.136C>T, p.Arg46Ter, 2 exon, NM_016213.4) was detected by whole exome sequencing. The mutation in the TRIP4 gene was validated by Sanger sequencing in a child and its origin was investigated. The mother and father of the girl are carriers of the heterozygous variant in the TRIP4 gene. Identification of the genetic cause of a rare form of neuromuscular disease is important for determining the tactics of patient management and medical and genetic counseling of the family, as well as clarifying the pathogenesis of a rare pathology.
Publisher
Publishing House ABV Press
Subject
Neurology (clinical),Neurology
Reference53 articles.
1. Davignon L., Chauveau C., Julien C. et al. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum Molec Genet 2016;25:1559–73. DOI: 10.1093/hmg/ddw033.
2. Bonnemann C.G., Wang C.H., QuijanoRoy S. et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014;24:289–311. DOI: 10.1016/j.nmd.2013.12.011.
3. Gilbreath H.R., Castro D., Iannaccone S.T. Congenital myopathies and muscular dystrophies. Neurol Clin 2014;32:689–703. DOI: 10.1016/j.ncl.2014.04.006.
4. North K.N., Wang C.H., Clarke N. et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014;24:97–116. DOI: 10.1016/j.nmd.2013.11.003.
5. Engel A.G., Gomez M.R., Groover R.V. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibres. Mayo Clin Proc 1971;46:666–81.