Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations

Authors

  • C. Pees,

    Corresponding author
    1. Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria
    2. Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Children's Hospital, Vienna, Austria
    • Corresponding author: Dr Christiane Pees, MD, Pediatric Heart Center Vienna/Division of Pediatric Cardiology, University Children's Hospital, Medical University Vienna, Währinger Gürtel 18–20, A-1090 Vienna, Austria.

      Tel.: +43 1 40400 3290;

      fax: +43 1 40400 3417;

      e-mail: christiane.pees@meduniwien.ac.at

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  • I. Michel-Behnke,

    1. Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria
    2. Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Children's Hospital, Vienna, Austria
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  • M. Hagl,

    1. Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria
    2. Institute for Medical Genetics, Medical University Vienna, Vienna, Austria
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  • F. Laccone

    1. Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria
    2. Institute for Medical Genetics, Medical University Vienna, Vienna, Austria
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  • The authors declare no conflict of interest.

Abstract

We report about 52 pediatric patients of 40 different families with confirmed Marfan syndrome (MFS) in 49 patients and Loeys–Dietz syndrome (LDS) in 3 patients. We found 39 different mutations, 15 of them being novel. Phenotype–genotype correlation in the 49 MFS patients showed that the majority of patients carrying mutations in exons 1–21 had ectopic lens (80%). Patients having mutations in exons 23–32 had a higher probability of aortic root dilation, in 50% even above a z score of 3. We found three children with neonatal MFS form, two of them with novel mutations. Of the three LDS patients, only one presented with the typical phenotype of LDS type 1.

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