DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 gene

Emanuela Conti; Nicoletta Grifone; Anna Sarkozy; Caterina Tandoi; Bruno Marino; Maria Cristina Digilio; Rita Mingarelli; Antonio Pizzutti; Bruno Dallapiccola

doi:10.1038/sj.ejhg.5200956

DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 gene

Emanuela Conti, Nicoletta Grifone, Anna Sarkozy, Caterina Tandoi, Bruno Marino, Maria Cristina Digilio, Rita Mingarelli, Antonio Pizzutti, Bruno Dallapiccola

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	349-351
Number of pages	3
Journal	European Journal of Human Genetics
Volume	11
Issue number	4
DOIs	https://doi.org/10.1038/sj.ejhg.5200956
Publication status	Published - Apr 1 2003

Keywords

Conotruncal heart defects
DiGeorge/Velo-cardio-facial syndrome
TBX1

ASJC Scopus subject areas

Genetics(clinical)

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DiGeorge subtypes of nonsyndromic conotruncal defects : Evidence against a major role of TBX1 gene. / Conti, Emanuela; Grifone, Nicoletta; Sarkozy, Anna; Tandoi, Caterina; Marino, Bruno; Digilio, Maria Cristina ; Mingarelli, Rita; Pizzutti, Antonio; Dallapiccola, Bruno.

In: European Journal of Human Genetics, Vol. 11, No. 4, 01.04.2003, p. 349-351.

Research output: Contribution to journal › Article › peer-review

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title = "DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 gene",

abstract = "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.",

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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

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