A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
✍ Scribed by Jeffrey Chinsky; Melissa Appel; Shlomo Almashanu; Paul Costeas; Nicholas Ambulos Jr.; Rivka Carmi
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 136 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Mutation analysis of DNA from cultured amniocytes with absent branched-chain -ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1 subunit of this multienzyme complex (BCKDHA). This pregnancy occured in a large consanguinous pedigree with multiple individuals with maple syrup urine disease (MSUD). PCR amplification of the region surrounding exon 7 allowed the identification of this mutation as well as two other previously identified mutations which cause MSUD. Summary: A PCR analysis was developed to detect a newly recognized mutation (R242X) causing maple syrup urine disease.