Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

Abstract excerpt

3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing alpha (MCCA) and smaller beta (MCCB) subunits encoded by MCCA and MCCB, respectively. We report studies of the c.1054G-->A mutation in exon 11 of MCCB detected in the homozygous state in a patient with MCC deficiency. Sequence analysis...

Topics

• Alternative Splicing
• Amino Acid Metabolism, Inborn Errors
• Carbon-Carbon Ligases
• Consanguinity
• DNA Mutational Analysis
• DNA, Complementary
• Exons
• Failure to Thrive
• Fibroblasts
• Humans
• Models, Genetic
• Mutation
• Mutation, Missense
• Sequence Analysis, DNA