Biochem Biophys Res Commun. 1991 Jan 31;174(2):804-9.

A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT.

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Department of Biochemistry, University of Texas, Southwestern Medical School, Dallas 75235.

Abstract

We have amplified the cDNA for the transacylase (E2) subunit of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex from a thiamine-responsive MSUD cell line (WG-34) by the polymerase chain reaction. Sequencing of the amplified WG-34 cDNA showed a 17-bp insertion (AAATACCTTGTTACCAG) apparently resulting from an aberrant splicing of the E2 gene, and a missense (T----G) mutation that changes Phe215 to Cys in the E2 subunit. The existence of these two mutations was confirmed by probing the amplified E2 cDNA or genomic DNA with allele-specific oligonucleotides. The above results support the thesis that the thiamine-responsive MSUD patient (WG-34) is a compound heterozygote at the E2 locus. The implication of the E2 mutations for the thiamine-responsiveness observed in this patient is discussed.

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E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. [J Clin Invest. 1997]
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
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Review [Gene analysis of maple syrup urine disease (MSUD)]. [Rinsho Byori. 1993]
Review [Gene analysis of maple syrup urine disease (MSUD)].
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Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. [Nucleic Acids Res. 2006]
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Biochem Biophys Res Commun. 1991 Jan 31 ;174(2):804-9.

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