Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation.

Loading...
Thumbnail Image
Date
2010-12
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
The authors report a 6 yr old boy with Barth syndrome who presented with cardiomyopathy, neutropenia and hypotonia. Urine gas chromatography showed high level of 3-methylglutaconic acid. The DNA of both the patient and the mother showed a heterozygous 3 bp deletion in exon 8 of the tafazzin gene. This abnormality involves the deletion of the bases TGA starting at cDNA nucleotide 891 (c891_893delTGA), resulting in the absence of glutamic acid at codon 202 from a highly conserved area of the tafazzin protein, consistent with the diagnosis of Barth syndrome. This is the first case report of Barth syndrome in Arab population emphasizing the importance of detailed investigations in cases of hereditary cardiomyopathy.
Description
Keywords
Barth syndrome, Cardiomyopathy, Tafazzin gene, 3-methylglutaconic acid
Citation
Aljishi Emtethal, Ali Fouad. Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation. Indian Journal of Pediatrics. 2010 Dec ; 77 (12): 1432-1433.