Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon

Junctional epidermolysis bullosa, a congenital disease characterized by widespread skin blistering, chronic wounds, loss of fluid and proteins, and severe infections, is caused by mutations in the genes LAMA3, LAMB3 and LAMC2. Individuals with mutations creating a premature termination codon (PTC) on both alleles of the respective gene usually die in infancy. In a patient carrying such a pair of PTC mutations in the gene LAMA3, we observed surprising clinical and molecular rescue due to spontaneous read-through of one of the mutations. The genetic context of this naturally occurring PTC mutation is close to a hypothetical consensus sequence for maximum termination codon read-through. Our findings provide clues for the prediction of PTC read-through in human genetic disease.  (By Dr Holm Schneider, http://jmg.bmj.com/content/early/2011/06/21/jmg.2011.089615.abstract?papetoc )