Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

@article{Boichard2008TwoSS,
  title={Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.},
  author={A Boichard and Lydia Venet and Thierry Naas and Audrey Boutron and Laurent Chevret and H{\'e}l{\`e}ne Ogier de Baulny and Pascale de Lonlay and Alain Legrand and P Nordman and Mich{\`e}le Brivet},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 3},
  pages={323-30}
}
BACKGROUND Synonymous mutations within exons may cause aberrant splicing by disrupting exonic splicing enhancer (ESE) motifs in the vicinity of non consensus splice sites. Mutational analysis of PDHA1 revealed only one silent single nucleotide substitution in exon 5 in two unrelated boys and a girl (c.483C>T and c.498C>T variants, respectively). For both patients, pyruvate dehydrogenase complex activity was low and the immunoreactive E1alpha protein was defective in cultured fibroblasts… CONTINUE READING
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