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