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Table 2 Genotypic and phenotypic data for the BS patients under study

From: New clinical and molecular insights on Barth syndrome

Patient TAZ gene mutation Reference Age of onset Manifestations at onset Exitus
Pt1 g.8009_16445del8437 this work first day of life respiratory distress, lactic acidosis, neutropenia ten days, heart failure
Pt2 g.[9777_9814del38; 9911-?_14402del] this work twelve hours of life mild cyanosis, neutropenia, lactic acidosis, dilated cardiomyopathy one year, heart failure
Pt3 c.641A>G (p.His214Arg) this work in utero dilated cardiomyopathy living, 8 years old
Pt4 c.367C>T (p.Arg123Term) [42] five months hypotonia and heart failure living, 11 years old
Pt5 c.678_691del14 (p.Tyr227Trpfs*79) this work five hours oxygen desaturation with cyanosis and bradycardia, lactic acidosis twelve days, heart failure
Pt6 c.284dupG (p.Thr96Aspfs*37) this work first month frequent regurgitation and vomiting, growth delay, lactic acidosis living, 3 years old