Aberrant splicing of Exon 6 in the pyruvate dehydrogenase-E1α mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy

Abstract

Pyruvate dehydrogenase (PDH)-Ela deficiency has recently been studied at the molecular-genetic level. The gene is situated on the X chromosome. We report on an unusual mutation in a familial Ela deficiency. In fibroblasts, PDH deficiency was diagnosed in a young infant presenting with Leigh's encephalomyelopathy and in a maternal nephew with episodes of "malaises." In the two affected children as well as their mothers we found a silent mutation in exon 6 of the PDH-Ela and an aberrant splicing of exon 6 in some of the cDNA clones. This case emphasizes the need for both genomic and cDNA analysis in cases where a PDH-Ela deficiency is strongly sus- j pected. © 1994 International Pediatric Research Foundation, Inc.