Human Genetics

, Volume 111, Issue 4–5, pp 421–427

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

  • Andra Ion
  • Marco Tartaglia
  • Xiaoling Song
  • Kamini Kalidas
  • Ineke van der Burgt
  • Adam C. Shaw
  • Jeffrey E. Ming
  • Giuseppe Zampino
  • Elaine H. Zackai
  • John C. Dean
  • Mirja Somer
  • Giancarlo Parenti
  • Andrew H. Crosby
  • Michael A. Patton
  • Bruce D. Gelb
  • Steve Jeffery
Original Investigation

DOI: 10.1007/s00439-002-0803-6

Cite this article as:
Ion, A., Tartaglia, M., Song, X. et al. Hum Genet (2002) 111: 421. doi:10.1007/s00439-002-0803-6

Abstract.

CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay. We have recently demonstrated that Noonan syndrome can be caused by missense mutations in PTPN11 (MIM 176876), a gene that encodes the non-receptor protein tyrosine phosphatase SHP-2. In this report, we have evaluated the possible involvement of mutations in PTPN11 in CFC syndrome. A cohort of 28 CFC subjects rigorously assessed as having CFC based on OMIM diagnostic criteria was examined for mutations in the PTPN11 coding sequence by using DHPLC analysis. The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Andra Ion
    • 1
  • Marco Tartaglia
    • 2
  • Xiaoling Song
    • 2
  • Kamini Kalidas
    • 1
  • Ineke van der Burgt
    • 5
  • Adam C. Shaw
    • 1
  • Jeffrey E. Ming
    • 7
  • Giuseppe Zampino
    • 6
  • Elaine H. Zackai
    • 7
  • John C. Dean
    • 8
  • Mirja Somer
    • 9
  • Giancarlo Parenti
    • 10
  • Andrew H. Crosby
    • 1
  • Michael A. Patton
    • 1
  • Bruce D. Gelb
    • 2
  • Steve Jeffery
    • 1
  1. 1.Department of Medical Genetics, St. George's Medical School, Cranmer Terrace, London SW17ORE, UK
  2. 2.Department of Pediatrics, Mount Sinai School of Medicine, New York, USA
  3. 3.Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Rome, Italy
  4. 4.Department of Human Genetics, Mount Sinai School of Medicine, New York, USA
  5. 5.Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
  6. 6.Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy
  7. 7.Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, USA
  8. 8.Medical Genetics, Polwarth Building, Medical School, Foresterhill, Aberdeen AB9 2ZD, UK
  9. 9.Department of Clinical Genetics, Helsinki University Central Hospital, P.O. Box 140, FIN-00029 HUS, Finland
  10. 10.Department of Pediatrics, Federico II University, Naples, Italy

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