Does novel TBX1 loss-of-function mutation cause isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion?
These observations suggest that the TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated CTDs. This is the first human missense mutation showing that TBX1 is a candidate causing isolated CTDs in Chinese patients without 22q11.2 deletion.
Doppler tissue imaging-derived RIMP may help differentiate ABS from obstructive LAD disease with high accuracy. This easily obtainable measurement may offer a noninvasive tool to differentiate these two conditions.