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This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes (out of a screen of 200). Other mutations in this gene are associated with the syndrome, but there are insufficient controls to establish this variant in particular as significant.
Gene is associated with disease, NBLOSUM100 = 4, Polyphen predicts damaging effect
Case/control data isn’t significant.
See Müller JS et al. 2007 (17439981).
No familial reports.
Neuromuscular disorder causing weakness. Symptoms can vary widely from mild to progressive debilitating weakness.
(“Congenital Myasthenic Syndromes”, Abicht & Lochmuller)
There are standard treatments that can help, some have side effects.
See unpublished research (below).
Presumed high penetrance effect
High clinical importance, Uncertain pathogenic
(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V,
Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M,
Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17. PubMed PMID: 17439981.
This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals out of a screen of 200 “so far unsolved” cases of congenital myasthenic syndromes. The authors mention screening 100 control DNAs (chromosomes?); we presume the mutation was not seen once in these.