Summary of patients with TBX1 mutations.

In addition to the mutations listed in this table, several missense variants and in-frame indels with unknown functions have been found in patients with isolated cardiovascular anomalies and in those with DGS/VCFS-like phenotype [4].NLS: nuclear localization signal; TAD: transactivation domain; LOF: loss-of-function; N.D.: not described; N.E.: not examined; GOF: gain-of-function; Del: deletion; and Dup: duplication.aAccording to NM_080647.bSuggestive of 22q11.2 deletion syndrome.cVelopharygeal insufficiency.dHypocalcemia is included.eTwo of the three subjects have been examined for hypoplastic thymus.fOne of the five subjects has been examined for hypoplastic thymus.gThese two mutations have been inherited from apparently normal mothers.hThe c.1293-1315del23 has been described as c.1320-1342del23 in the original report [5].iAlthough the natural NLS has been disrupted, a new NLS-compatible motif (RGRRRRCR) has been created on the added amino acid sequence.jAnother deceased individual in this family also has similar clinical features.kThese two mutations have been identified in TBX1 analyses for patients with cardiovascular anomalies only.lThe mutant protein is aggregated in the cytoplasm and the nucleus.mGain-of-function effects have been found by in vitro studies [8].