Barth syndrome: an X-linked cardiomyopathy with a novel mutation.
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.
Aljishi
Emtethal
E
Salmaniya Medical Complex, Manama, Bahrain. ejishi@health.gov.bh
Ali
Fouad
F
D000217:Acyltransferases; D056889:Barth Syndrome / Q000235:genetics*; D002648:Child; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human