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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

  1. A De Luca1,*,
  2. A Sarkozy1,†,
  3. R Ferese1,2,
  4. F Consoli1,2,
  5. F Lepri1,
  6. ML Dentici1,
  7. P Vergara1,
  8. A De Zorzi3,
  9. P Versacci4,
  10. MC Digilio3,
  11. B Marino4,
  12. B Dallapiccola3

Article first published online: 2 AUG 2010

DOI: 10.1111/j.1399-0004.2010.01523.x

Issue

Clinical Genetics

Clinical Genetics

Special Issue: Exome Sequencing

Volume 80, Issue 2, pages 184–190, August 2011

Additional Information

How to Cite

De Luca, A., Sarkozy, A., Ferese, R., Consoli, F., Lepri, F., Dentici, M., Vergara, P., De Zorzi, A., Versacci, P., Digilio, M., Marino, B. and Dallapiccola, B. (2011), New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clinical Genetics, 80: 184–190. doi: 10.1111/j.1399-0004.2010.01523.x

Author Information

  1. 1

    CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy

  2. 2

    Department of Experimental Medicine, “Sapienza” University, Rome, Italy

  3. 3

    Bambino Gesù Children Hospital, IRCCS, Rome, Italy

  4. 4

    Division of Pediatric Cardiology, Department of Pediatrics, “Sapienza” University, Rome, Italy

  1. †

    Current address: Northern Genetic Service, Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

*Alessandro De Luca, CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Viale Regina Margherita 261, Rome 00198, Italy. Tel.: +39-06-44160533; fax: +39-06-44160548; e-mail: a.deluca@css-mendel.it

  1. †

    Current address: Northern Genetic Service, Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

Publication History

  1. Issue published online: 12 JUL 2011
  2. Article first published online: 2 AUG 2010
  3. Accepted manuscript online: 2 AUG 2010 12:00AM EST
  4. Received 8 May 2010, revised and accepted for publication 27 July 2010

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Supporting Information

The following Supporting information is available for this article:

Fig. S1. Denaturing high-performance liquid chromatography (DHPLC) electropherograms. (a) Electropherograms showing c.89A→G, predicting p.Glu30Gly in the ZFPM2/FOG2 gene from a patient (N6) with double outlet right ventricle (DORV) vs wild type. (b) Electropherograms showing c.679A→G, predicting p.Ile227Val in the ZFPM2/FOG2 gene from a patient (N3) with DORV vs wild type. (c) Electropherograms showing c.1632G→A, predicting p.Met544Ile in the ZFPM2/FOG2 gene from a patient (N106) with tetralogy of Fallot (TOF) vs wild type.

Fig. S2. (a) DNA sequencing chromatograms showing heterozygosity in ZFPM2/FOG2 coding region. Arrows indicate the variant nucleotides. Wild-type and mutated sequences are shown below the electropherograms (mutations are boxed in red). (a) Chromatogram showing c.89A→G, predicting p.Glu30Gly in the ZFPM2/FOG2 gene from a patient (N6) with double outlet right ventricle (DORV). (b) Chromatogram showing c.679A→G, predicting p.Ile227Val in the ZFPM2/FOG2 gene from a patient (N3) with DORV. (c) Chromatogram showing c.1632G→A, predicting p.Met544Ile in the ZFPM2/FOG2 gene from a patient (N106) with tetralogy of Fallot (TOF).

Fig. S3. Denaturing high-performance liquid chromatography (DHPLC) electropherograms showing c.73C→T, predicting p.Arg25Cys in the NKX2.5 gene from patients N120 (a) and N157 (b), both affected by tetralogy of Fallot (TOF). *This patient was compound heterozygotes for the c.73C→T variant and the c.63A→G (p.Glu21Glu) polymorphism in the NKX2.5 gene.

Fig. S4. Chromatograms showing c.73C→T, predicting p.Arg25 Cys in the NKX2.5 gene from patients N120 (a) and N157 (b), both affected by tetralogy of Fallot (TOF). Arrows indicate the variant nucleotides. Wild-type and mutated sequences are shown below the electropherograms (mutations are boxed in red).

Table S1. Primers, polymerase chain reaction (PCR), and denaturing high-performance liquid chromatography (DHPLC) conditions for analysis of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 exons.

Additional Supporting information may be found in the online version of this article.

FilenameFormatSizeDescription
CGE_1523_sm_fS1.ppt1206KSupporting info item
CGE_1523_sm_fS2.ppt128KSupporting info item
CGE_1523_sm_fS3.ppt535KSupporting info item
CGE_1523_sm_fS4.ppt108KSupporting info item
CGE_1523_sm_tS1.doc70KSupporting info item

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