TY - JOUR
T1 - DiGeorge subtypes of nonsyndromic conotruncal defects
T2 - Evidence against a major role of TBX1 gene
AU - Conti, Emanuela
AU - Grifone, Nicoletta
AU - Sarkozy, Anna
AU - Tandoi, Caterina
AU - Marino, Bruno
AU - Digilio, Maria Cristina
AU - Mingarelli, Rita
AU - Pizzutti, Antonio
AU - Dallapiccola, Bruno
PY - 2003/4/1
Y1 - 2003/4/1
N2 - 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.
AB - 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.
KW - Conotruncal heart defects
KW - DiGeorge/Velo-cardio-facial syndrome
KW - TBX1
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UR - http://www.scopus.com/inward/citedby.url?scp=0038364111&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5200956
DO - 10.1038/sj.ejhg.5200956
M3 - Article
C2 - 12700609
AN - SCOPUS:0038364111
VL - 11
SP - 349
EP - 351
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -