| Abstract: | Mutation analysis of DNA from cultured amniocytes with absent branched-chain α-ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1a 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. hum Mutat 12:136, 1998. © 1998 Wiley-Liss, Inc. |
