Barth Syndrome: An X-linked Cardiomyopathy with a Novel Mutation.
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Date
2010-12
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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.