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A nonsense mutation (R242X) in the branched‐chain α‐keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease
Author(s) -
Chinsky Jeffrey,
Appel Melissa,
Almashanu Shlomo,
Costeas Paul,
Ambulos Nicholas,
Carmi Rivka
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0
Subject(s) - glucokinase , biology , maturity onset diabetes of the young , missense mutation , nonsense mutation , maple syrup urine disease , proband , genetics , medicine , endocrinology , mutation , gene , leucine , amino acid
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.