Conti Emanuela, Grifone Nicoletta, Sarkozy Anna, Tandoi Caterina, Marino Bruno, Digilio Maria Cristina, Mingarelli Rita, Pizzuti Antonio, Dallapiccola Bruno
CSS Hospital, IRCCS, San Giovanni Rotondo, Italy.
Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956.
The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). Mutation analysis of the TBX1 gene in isolated, nonsyndromic CTDs has not demonstrated any functional pathogenetic variation so far. We screened the TBX1 gene in 41 patients affected by nonsyndromic CTDs of the DGS/VCFS subtype, principally "atypical" tetralogy of Fallot. Besides a few polymorphisms, we did not find any pathogenetic variation. These results do not support a major role of the TBX1 gene as responsible for human nonsyndromic CTDs.
22q11区域基因，尤其是其中的TBX1基因，在非综合征性圆锥动脉干畸形（CTD）中的作用仍不明确。Tbx1基因座半合子的小鼠心脏流出道异常的发生率显著，与常见于DiGeorge/心脏-颜面综合征（DGS/VCFS）的异常类型相同。迄今为止，对孤立的非综合征性CTD患者的TBX1基因进行突变分析，尚未发现任何功能性致病变异。我们对41例受DGS/VCFS亚型非综合征性CTD影响的患者进行了TBX1基因筛查，主要是“非典型”法洛四联症。除了一些多态性外，我们未发现任何致病变异。这些结果不支持TBX1基因在人类非综合征性CTD中起主要作用。
