J Clin Neurol.  2016 Oct;12(4):509-511. 10.3988/jcn.2016.12.4.509.

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

Affiliations
  • 1Department of Biological Sciences, Kongju National University, Gongju, Korea.
  • 2Department of Neurology, Samsung Medical Center, Samsung Advanced Institute for Health Science & Tech, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 3Department of Neurology, Chungbuk National University College of Medicine, Cheongju, Korea. sslee@chungbuk.ac.kr

Abstract

No abstract available.


MeSH Terms

Humans
Myotonia Congenita*
Myotonia*

Figure

  • Fig. 1 Pedigree, physique, and genetic information of a large myotonia congenita family with the c.G3877A (p.V1293I) mutation in SCN4A. A: Pedigree of an autosomal dominant myotonia congenita family. The c.G3877A genotype is indicated underneath each examined individual. The proband is indicated by an arrow, with unaffected and affected individuals indicated by open and filled symbols, respectively. B: Photograph of the thigh and leg of the proband. C: Sequencing chromatograms of the c.G3877A mutation. Vertical arrow indicates the mutation site. D: Conservation of the mutation site in the SCN4A protein. E: Pathogenic mutations that have been reported in the SCN4A. The p.V1293I mutation is highlighted by the red box. The mutation sites are indicated by small circles of the following different colors (allele information from OMIM website: http://omim.org/allelicVariant/603967): red (myotonia congenita/fluctuans), yellow (paramyotonia congenita), green (hypokalemic periodic paralysis), purple (myasthenic syndrome), black (normokalemic periodic paralysis), pink (paramyotonia congenita or myotonia congenita), and blue (paramyotonia congenita or hyperkalemic periodic paralysis).


Reference

1. Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991; 67:1021–1027.
Article
2. Koch MC, Baumbach K, George AL, Ricker K. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). Neuroreport. 1995; 6:2001–2004.
Article
3. Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, et al. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. Ann Neurol. 2015; 77:840–850.
Article
4. Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, et al. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry. 2003; 74:1339–1341.
Article
5. Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A. 2008; 146A:380–383.
Article
6. Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet. 1994; 6:267–272.
Article
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