Article (Scientific journals)
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Lissens, W.; De Meirleir, L.; Seneca, S. et al.
1996In Human Mutation, 7 (1), p. 46-51
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Keywords :
Base Sequence; Cells, Cultured; Child; Female; Fibroblasts; Humans; Infant; Male; Molecular Sequence Data; Mutation; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pyruvate Dehydrogenase (Lipoamide); Pyruvate Dehydrogenase Complex/genetics; Pyruvate Dehydrogenase Complex Deficiency Disease/diagnosis/genetics; Repetitive Sequences, Nucleic Acid; Transcription, Genetic; X Chromosome
Abstract :
[en] Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and single-strand conformation polymorphism (SSCP) analysis. With this method, we studied eight patients with a PDH complex deficiency, using cultured fibroblasts. In all patients, aberrant SSCP patterns were found and, after sequencing of the corresponding fragments, we were able to identify six new mutations and two mutations already described previously. The mutations are point mutations leading to amino acid substitutions (5) and direct repeat insertions (3). The presence of the mutations was confirmed in genomic fibroblast DNA. The 4 female patients were shown to carry both a normal and a mutated E1 alpha gene.
Disciplines :
Neurology
Pediatrics
Author, co-author :
Lissens, W.;  University Hospital VUB, 1090 Brussels, Belgium > Medical Genetics
De Meirleir, L.;  University Hospital VUB, 1090 Brussels, Belgium > Medical Genetics and Neuropediatrics
Seneca, S.;  University Hospital VUB, 1090 Brussels, Belgium > Medical Genetics
Benelli, C.;  Hôpital Necker - Enfants Malades, Paris > INSERM U30
Marsac, C.;  Hospices Civils de Strasbourg, 67098 Strasbourg, France > INSERM U75
Poll-The, B. T.;  Wilhelmia Kinderziekenhuis, 3501 CA Utrecht, The Netherlands
Briones, P.;  Institut de Bioquimica Clinica, CSIC, 08290 Barcelona, Spain
Ruitenbeek, W.;  University Hospital, 6500 HB Nijmegen
van Diggelen, O.;  Erasmus University, 3000 DR Rotterdam, The Netherlands > Clinical Genetics
Chaigne, D.;  Hospices Civils de Strasbourg, 67098 Strasbourg, France
RAMAEKERS, Vincent ;  Kinderklinik der Medizinischen Fakultät, 5100 Aachen, Germany
Liebaers, I.;  University Hospital VUB, 1090 Brussels, Belgium > Medical Genetics
Language :
English
Title :
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Publication date :
1996
Journal title :
Human Mutation
ISSN :
1059-7794
eISSN :
1098-1004
Publisher :
John Wiley & Sons, Hoboken, United States - New Jersey
Volume :
7
Issue :
1
Pages :
46-51
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 23 May 2014

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