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