eLetters

105 e-Letters

  • Re:Comments on the revised Ghent nosology for Marfan syndrome
    Bart L. Loeys

    We would like to thank Dr. Hennekam for his comments but would like to reply to several points made by him. We agree with Dr. Hennekam that there is a good correlation between the current nosology and the FBN1 mutation uptake, but an important goal for the new nosology is to make it simpler and more easily applicable (which is not always true for the current one). There is also an important focus on the cardiovascular a...

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  • Prophylactic mastectomy or surveillance?
    Hanneke W.M. van Laarhoven

    Bancroft et al. describe the successful establishment of a novel specialist clinic for BRCA1/2 mutation carriers. (1) The authors should be applauded for the introduction of this specialized, multi-disciplinary clinic. However, although their study provides elaborate data on numbers of patients followed in this clinic, it remains unclear what the information provision and guidance for decision-making in the multi- discipl...

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  • Comments on the revised Ghent nosology for Marfan syndrome
    Raoul C.M. Hennekam

    The Ghent criteria as proposed in 1996 are world-wide well accepted to define the diagnostic criteria for Marfan syndrome. The criteria are easy to use and work extremely well, shown by finding causative FBN1 Mutations in 97% of cases. Indeed this specificity of diagnostic criteria is amongst the highest reported in any syndromic entity. A large group of superb Marfan specialists have now suggested a revision of these cr...

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  • Reply to: The revised Ghent nosology for the Marfan Syndrome
    jan maarten cobben

    To the editor

    In the July issue, Loeys and colleagues present new diagnostic criteria for Marfan Syndrome (MFS) in their manuscript "The revised Ghent nosology for the Marfan Syndrome"[1]. After publication of these Revised Ghent Marfan criteria, a manuscript was published which in part supports their opinions[2]. After complimenting Loeys et.al. with the result of their multidisciplinary effort, we would like...

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  • A response to "SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral: genotype - phenotype correlations"
    Miguel Mitne-Neto

    Dr. Constantin Polychronakos, Editor Journal of Medical Genetics Dear Dr. Polychronakos We read with great interest the recent publication from your journal entitled "SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral: genotype - phenotype correlations" Millecamps S., Salachas F., Cazeneuve C., et al. J Med Genet published online June 24, 2010 doi: 10.1136/jmg.2010.077180. This manuscript brings re...

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  • Response to Borlak eletter
    Michael Mitchell

    ----------------------------------------------------------------- "Commentary on investigations of somatic NKX2-5 mutations in congenital heart disease (CHD) " -----------------------------------------------------------------

    Somatic mutations in transcription factor genes pertinent to cardiac tissue development have been put forward as a molecular rationale of CHD. Nkx2-5 is a homeodomain-containing transcription...

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  • Commentary on investigations of somatic NKX2-5 mutations in congenital heart disease (CHD)
    Juergen Borlak

    Somatic mutations in transcription factor genes pertinent to cardiac tissue development have been put forward as a molecular rationale of CHD. Nkx2-5 is a homeodomain-containing transcription factor and is conserved in many organisms from flies to humans. It is an important transcriptional regulator of mammalian heart development. Absence of Nkx2-5 in animal models results in lethality due to impaired heart tube looping (...

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  • New microdeletion syndromes: complex, but no new paradigms
    David H. Ledbetter

    The report by van Bon et al. contributes additional data on phenotypic variability associated with the newly described recurrent, microdeletion at 15q13.3. However, I have two objections to the data presentation and conclusions of the article.

    First, the authors continue an unfortunate new trend of combining data presentations for microdeletions and their reciprocal microduplication products. It is extremely r...

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  • New challenges for informed consent through whole-genome array testing
    Christian Netzer

    New challenges for informed consent through whole-genome array testing

    Christian Netzer1,2, Christine Klein3, Jürgen Kohlhase4, Christian Kubisch1,2

    1Institute of Human Genetics, University of Cologne, Germany

    2Center of Molecular Medicine Cologne, University of Cologne, Germany

    3Department of Neurology, University of Lübeck, Germany

    4Center for Human Genetics Freiburg, F...

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  • Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers
    Ranjit Manchanda

    Dear Sirs,

    We read with great interest the paper by Evans et al1 published online in your journal. The authors should be commended for having collected data from different sources to present a substantial series to try and draw some inferences. However their inferences from these data are questionable and they have failed to recognise that their data suggest a change in stage distribution as a result of screenin...

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