Congenital myasthenic syndromes core panel

Congenital myasthenic syndromes core panel

[6 genes]

TOURNAROUND TIME: 6 WEEKS

CHAT CHRNE COLQ DOK7
GFPT1 RAPSN

Congenital myasthenia is a group of disorders caused by a biochemical defect or a structural alteration of the neuromuscular junction that leads to a clinical picture of muscle weakness and fatigability from birth or early infancy. It is important to distinguish these forms of the disease from myasthenia gravis (a disorder of autoimmune origin) and neonatal myasthenia (in children of mothers with myasthenia gravis).

The prevalence of congenital myasthenic syndromes has been estimated between 1/500 000 (GeneReviews) and 9.2/1 000 000 (Parr et al., 2014). Its etiology is largely genetic. As of today, several involved genes are known, allowing for two thirds of cases to have a positive genetic diagnosis (Jacob et al., 2009).

The most frequently involved genes and their diagnostic yields are CHRNE (50%), RAPSN (15-20%), COLQ (10-15%), DOK7 (10-15%), CHAT (5%), and GFPT1 (2%). The core panel includes these six genes, and we have also developed a comprehensive panel with 23 related genes that will allow optimizing the diagnostic yield.

REFERENCES
  1. Abicht A, Müller J S, Lochmüller H. Congenital Myasthenic Syndromes. 2003 May 9 [updated 2016 Jul 14]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017
  2. Jacob S, Viegas S, Lashley D, Hilton-Jones D. Myasthenia gravis and other neuromuscular junction disorders. Pract Neurol. 2009 Dec;9(6):364-71
  3. Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch Dis Child. 2014 Jun;99(6):539-42

 

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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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