DiGeorge subtypes of nonsyndromic conotruncal defects:: evidence against a major role of TBX1 Gene

被引：38

作者：

Conti, E

Grifone, N

Sarkozy, A

Tandoi, C

Marino, B

Digilio, MC

Mingarelli, R

Pizzuti, A

Dallapiccola, B

机构：

[1] CSS Hosp, IRCCS, San Giovanni Rotondo, Italy

[2] CSS Mendel Inst, I-00198 Rome, Italy

[3] Univ Roma La Sapienza, Dept Expt Med & Pathol, Med Genet Sect, Rome, Italy

[4] Univ Roma La Sapienza, Inst Pediat, Pediat Cardiol Sect, Rome, Italy

[5] Bambino Gesu Pediat Hosp, IRCCS, Div Med Genet, Rome, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 04期

关键词：

TBX1; conotruncal heart defects; DiGeorge/Velo-cardio-facial syndrome;

D O I：

10.1038/sj.ejhg.5200956

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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/Veto-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.

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页码：349 / 351

页数：3

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