Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): How does G at position +3 result in aberrant splicing?

Article Abstract:

Aberrant splicing and congenital end-plate acetylcholinesterase deficiency, a result of a nonsense mutation, are discussed. An A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ) and the position of G are factors and the nature of the involvement has been investigated. It is concluded that with G at +3, normal splicing, which usually depends on the concordance that residues at +4 and +6 have with U1 small nuclear RNA (snRNA), goes on, but that other cis-acting factors may be important to keep splicing normal. A disabling myasthenic syndrome is related to congenital end-plate acetylcholinesterase (AChE) deficiency (CEAD), which comes from COLQ gene defects.

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Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

Article Abstract:

Researchers have discovered a causal link between isoform mutation and phenotype in determining inherited cardiac arrhythmia syndrome. Using a mammalian expression system, specific mutations were identified that suppress dominant-negative truncated KvLQT1 effects. Carriers of these mutations may still exhibit cardiac current repolarization if non-truncated KvLQT1 protein is unaffected by the truncated isoform.

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Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic)

Article Abstract:

Research indicates that a collagen gene is responsible for congenital myasthenic syndrome (CMS). A mutation in COLQ, an acetylcholinesterase-associated collagen gene, was linked with CMS along with end-plate acetylcholinesterase deficiency. The disease, a rare autosomal recessive condition, is characterized by morphological abnormalities and generalized weakness, making detection and prevention critical.

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