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© 1993 Oxford University Press

OTHER

Mutations in the X-linked E1{alpha} subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

Kathy Chun, Neviana MacKay, Roumyana Petrova-Benedict and Brian H. Robinson*

Departments of Paediatrics and Biochemistry, University of Toronto and the Research Institute, Hospital for Sick Children Toronto, Ontario, Canada

*To whom correspondence should be addressed at: The Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G IX8, Canada

Received October 6, 1992; Revised January 17, 1993; Accepted January 17, 1993

Human PDH complex deficiency is an extremely heterogeneous disease in its presentation and clinical course. In an investigation at the level of the gene into ten cases of PDH complex (E1) deficiency, we found that all had mutations in the coding sequence of the X-linked E1{alpha} gene while the E1ß coding sequence was normal. Six of these patients (three males, three females) had missense mutations resulting in a changed amino acid residue in the E1{alpha} subunit at positions amino acid 148 (in two siblings), 170, 202, 234 and 263 of the mature protein. Two of the females had one normal E1{alpha} gene and one with a deletion at the sites of tandem repeats of AGTAAGA and TAT respectively. The two remaining females also had one normal E1{alpha} gene and one with an insertion. Both insertions, one of 2 bp and one of 4 bp, occurred in DNA hotspots normally associated with deletions. Only two of these ten mutations have been reported in other patients previously. In the five cases (including the two siblings) where parent DNA was available, only in one case could the same mutation be found in the patient as well as the maternal genomic DNA.


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