RESUMEN
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.
Asunto(s)
Humanos , Lactante , Masculino , Síndrome de Barth , Cardiolipinas , Cardiomiopatías , Insuficiencia de Crecimiento , Corea (Geográfico) , Enfermedades Musculares , NeutropeniaRESUMEN
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
Asunto(s)
Adolescente , Humanos , Masculino , Acidosis/etiología , Enfermedad Aguda , Síndrome de Barth/diagnóstico , Medios de Contraste/efectos adversos , Mutación del Sistema de Lectura , Insuficiencia Cardíaca/etiología , Homocigoto , Mutación , Linaje , Análisis de Secuencia de ADN , Tomografía Computarizada por Rayos X , Factores de Transcripción/genéticaRESUMEN
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.