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Anna Sarkozy - One of the best experts on this subject based on the ideXlab platform.

  • new mutations in ZFPM2 fog2 gene in tetralogy of fallot and double outlet right ventricle
    Clinical Genetics, 2011
    Co-Authors: A. De Luca, Anna Sarkozy, Rosangela Ferese, Federica Consoli, Francesca Lepri, Maria Lisa Dentici, P Vergara, A De Zorzi
    Abstract:

    De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Conotruncal defects (CTDs) represent 15–20% of all congenital heart defects. Mutations in a number of genes have been associated with CTD in humans and animal models. We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients). Denaturing high-performance liquid chromatography (DHPLC) analysis followed by bidirectional sequencing disclosed no putative pathogenic mutation in GATA4, ISLET1, and GDF1 genes. Two novel (Ile227Val, Met544Ile) and one previously reported (Glu30Gly) possibly pathogenic missense variants were identified in the ZFPM2/FOG2 gene in 3 sporadic patients of 202 (1.5%) with CTD, including 1 of 178 (0.6%) with TOF and 2 of 13 (15.4%) with DORV. Mutation analysis also detected one known missense change (Arg25Cys) in NKX2.5 gene in two (1.1%) sporadic patients with TOF. These sequence alterations were found to be absent in 500 population-matched controls. In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.

  • New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
    Clinical genetics, 2010
    Co-Authors: A. De Luca, Anna Sarkozy, Rosangela Ferese, Federica Consoli, Francesca Lepri, Maria Lisa Dentici, P Vergara, A De Zorzi, Paolo Versacci, Maria Cristina Digilio
    Abstract:

    De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Conotruncal defects (CTDs) represent 15–20% of all congenital heart defects. Mutations in a number of genes have been associated with CTD in humans and animal models. We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients). Denaturing high-performance liquid chromatography (DHPLC) analysis followed by bidirectional sequencing disclosed no putative pathogenic mutation in GATA4, ISLET1, and GDF1 genes. Two novel (Ile227Val, Met544Ile) and one previously reported (Glu30Gly) possibly pathogenic missense variants were identified in the ZFPM2/FOG2 gene in 3 sporadic patients of 202 (1.5%) with CTD, including 1 of 178 (0.6%) with TOF and 2 of 13 (15.4%) with DORV. Mutation analysis also detected one known missense change (Arg25Cys) in NKX2.5 gene in two (1.1%) sporadic patients with TOF. These sequence alterations were found to be absent in 500 population-matched controls. In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.

  • ZFPM2 fog2 and hey2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Roberto Formigari, Fernando Picchio, Rita Dagostino, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

Maria Cristina Digilio - One of the best experts on this subject based on the ideXlab platform.

  • New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
    Clinical genetics, 2010
    Co-Authors: A. De Luca, Anna Sarkozy, Rosangela Ferese, Federica Consoli, Francesca Lepri, Maria Lisa Dentici, P Vergara, A De Zorzi, Paolo Versacci, Maria Cristina Digilio
    Abstract:

    De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Conotruncal defects (CTDs) represent 15–20% of all congenital heart defects. Mutations in a number of genes have been associated with CTD in humans and animal models. We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients). Denaturing high-performance liquid chromatography (DHPLC) analysis followed by bidirectional sequencing disclosed no putative pathogenic mutation in GATA4, ISLET1, and GDF1 genes. Two novel (Ile227Val, Met544Ile) and one previously reported (Glu30Gly) possibly pathogenic missense variants were identified in the ZFPM2/FOG2 gene in 3 sporadic patients of 202 (1.5%) with CTD, including 1 of 178 (0.6%) with TOF and 2 of 13 (15.4%) with DORV. Mutation analysis also detected one known missense change (Arg25Cys) in NKX2.5 gene in two (1.1%) sporadic patients with TOF. These sequence alterations were found to be absent in 500 population-matched controls. In conclusion, the present results (i) indicate and confirm that mutations in the GATA4, GDF1, and ISLET1 genes are not major determinants in the pathogenesis of TOF, (ii) provide supportive evidence of an association between ZFPM2/FOG2 gene and TOF/DORV, and (iii) provide additional examples of the possible contribution of the Arg25Cys change in the NKX2.5 to a small number of TOF cases.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.

  • ZFPM2 fog2 and hey2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Roberto Formigari, Fernando Picchio, Rita Dagostino, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • mutations of ZFPM2 fog2 gene in sporadic cases of tetralogy of fallot
    Human Mutation, 2003
    Co-Authors: Antonio Pizzuti, Anna Sarkozy, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Anthea Newton, Debora Gianni
    Abstract:

    Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.

Rui Medeiros - One of the best experts on this subject based on the ideXlab platform.

  • Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients
    The Pharmacogenomics Journal, 2020
    Co-Authors: Valéria Tavares, Ricardo Pinto, Joana Assis, Sara Coelho, Mariana Brandão, Sara Alves, Deolinda Pereira, Rui Medeiros
    Abstract:

    Ovarian cancer (OC) represents the most lethal gynaecological neoplasia. Conversely, venous thromboembolism (VTE) and OC are intricately connected, with many haemostatic components favouring OC progression. In light of this bilateral relationship, genome-wide association studies (GWAS) have reported several single-nucleotide polymorphisms (SNPs) associated with VTE risk that could be used as predictors of OC clinical outcome for better therapeutic management strategies. Thus, the present study aimed to analyse the impact of VTE GWAS-identified SNPs on the clinical outcome of 336 epithelial ovarian cancer (EOC) patients. Polymorphism genotyping was performed using the TaqMan^® Allelic Discrimination methodology. Carriers with the ZFPM2 rs4734879 G allele presented a significantly higher 5-year OS, 10-year OS and disease-free survival (DFS) compared to AA genotype patients with FIGO I/II stages ( P  = 0.009, P  = 0.001 and P  = 0.003, respectively). Regarding SLC19A2 rs2038024 polymorphism, carriers with the CC genotype presented a significantly lower 5-year OS, 10-year OS and DFS compared to A allele carriers in the same FIGO subgroup ( P  

  • Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients.
    The pharmacogenomics journal, 2020
    Co-Authors: Valéria Tavares, Ricardo Pinto, Joana Assis, Sara Coelho, Mariana Brandão, Sara Alves, Deolinda Pereira, Rui Medeiros
    Abstract:

    Ovarian cancer (OC) represents the most lethal gynaecological neoplasia. Conversely, venous thromboembolism (VTE) and OC are intricately connected, with many haemostatic components favouring OC progression. In light of this bilateral relationship, genome-wide association studies (GWAS) have reported several single-nucleotide polymorphisms (SNPs) associated with VTE risk that could be used as predictors of OC clinical outcome for better therapeutic management strategies. Thus, the present study aimed to analyse the impact of VTE GWAS-identified SNPs on the clinical outcome of 336 epithelial ovarian cancer (EOC) patients. Polymorphism genotyping was performed using the TaqMan® Allelic Discrimination methodology. Carriers with the ZFPM2 rs4734879 G allele presented a significantly higher 5-year OS, 10-year OS and disease-free survival (DFS) compared to AA genotype patients with FIGO I/II stages (P = 0.009, P = 0.001 and P = 0.003, respectively). Regarding SLC19A2 rs2038024 polymorphism, carriers with the CC genotype presented a significantly lower 5-year OS, 10-year OS and DFS compared to A allele carriers in the same FIGO subgroup (P 

Antonio Pizzuti - One of the best experts on this subject based on the ideXlab platform.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.

  • ZFPM2 fog2 and hey2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Roberto Formigari, Fernando Picchio, Rita Dagostino, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • mutations of ZFPM2 fog2 gene in sporadic cases of tetralogy of fallot
    Human Mutation, 2003
    Co-Authors: Antonio Pizzuti, Anna Sarkozy, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Anthea Newton, Debora Gianni
    Abstract:

    Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.

  • Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
    Human mutation, 2003
    Co-Authors: Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino
    Abstract:

    Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.

Bruno Marino - One of the best experts on this subject based on the ideXlab platform.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
    American journal of medical genetics. Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.

  • ZFPM2 fog2 and hey2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Roberto Formigari, Fernando Picchio, Rita Dagostino, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia
    American Journal of Medical Genetics Part A, 2005
    Co-Authors: Anna Sarkozy, Antonio Pizzuti, Emanuela Conti, Maria Cristina Digilio, Bruno Marino, Rita D'agostino, Roberto Formigari, Fernando Picchio, Bruno Dallapiccola
    Abstract:

    Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic ZFPM2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt. © 2005 Wiley-Liss, Inc.

  • Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
    Human mutation, 2003
    Co-Authors: Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino
    Abstract:

    Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.

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