Barth syndrome: Clinical observations and genetic linkage studies
Corresponding Author
Dr. J. Christodoulou
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
University Teaching Unit, Children's Hospital, Camperdown, N.S.W., Australia 2050Search for more papers by this authorR. R. McInnes
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorV. Jay
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorG. Wilson
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorL. E. Becker
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorD. C. Lehotay
Department of Clinical Biochemistry, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorB.-A. Platt
Department of Clinical Biochemistry, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorP. J. Bridge
Diagnostic DNA Laboratory, Kingston General Hospital, Kingston, Ontario, Canada
Search for more papers by this authorB. H. Robinson
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorJ. T. R. Clarke
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorCorresponding Author
Dr. J. Christodoulou
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
University Teaching Unit, Children's Hospital, Camperdown, N.S.W., Australia 2050Search for more papers by this authorR. R. McInnes
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorV. Jay
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorG. Wilson
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorL. E. Becker
Department of Pathology, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorD. C. Lehotay
Department of Clinical Biochemistry, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorB.-A. Platt
Department of Clinical Biochemistry, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorP. J. Bridge
Diagnostic DNA Laboratory, Kingston General Hospital, Kingston, Ontario, Canada
Search for more papers by this authorB. H. Robinson
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorJ. T. R. Clarke
Departments of Pediatrics and Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for more papers by this authorAbstract
Barth syndrome is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function. Some, but not all patients, exhibit carnitine deficiency and/or the presence of 3-methylglutaconic and ethylhydracylic acids in urine. Recently the mutation causing Barth syndrome was localised to the Xq28 region by linkage analysis. We report 6 cases of Barth syndrome from 4 families and highlight the fact that neuromuscular and cardiovascular symptoms and the severity of infections tend to improve with age, while short stature persists. Also previously unreported was myopathic facies and nasal quality to speech in our cases. The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings. We propose that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain. © 1994 Wiley-Liss, Inc.
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