eLetters

38 e-Letters

published between 2004 and 2007

  • We need a detailed Phenome in the PHENOMEnon of genetics and congenital heart disease
    Maximilian G Posch
    Dear Editor

    In their interesting manuscript, Tomita-Mitchell and colleagues present four novel GATA4 sequence variations as pathogenic substrates for congenital heart disease (CHD) in humans[1]. CHD are the most common birth defect and affect almost 1% of all newborns. Since surgical approaches have substantially improved over the last decades, the number of grown ups with CHD (GUCH) is growing continuously. This fact dema...

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  • Response to Stenson et al. on the review of general mutation databases
    Richard A George

    Dear Editor

    We thank the Human Gene Mutation Database (HGMD) team for critically analysing our results, and highlighting some potential problems with our analysis.

    Many of the criticisms raised by Stenson et al. relate to mutations that were outside the terms of reference of the study. For instance, a major criticism raised by Stenson et al. was that the review was not comprehensive viz we negle...

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  • "SCA16" is really SCA15
    R. J. McKinlay Gardner
    Dear Editor

    I was most interested to read the paper of Iwaki et al. on ‘SCA16’, in a large ataxia kindred with a deletion of the ITPR1 gene 1.

    SCA15 has been a close interest of our group, going from the study of the original family that defined the condition, to the recent discovery of the ITPR1 gene as its basis2 3 4 5.

    It is interesting and useful information from Iwaki et al. that the...

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  • SCN5A R1193Q Associated Progressive Cardiac Conduction Defects and LQTS in a Chinese Family
    Junbo Ge

    Dear Editor

    Prevous studies have demonstrated that the prevalence rate of R1195Q in SCN5A gene ranges from 0.2% to 12% and suggested this mutation may be a risk factor for long QT syndrome (LQTS) [1,2]. However, Chen et al showed no association between R1193Q and the disease process or ECG abnormalities in a four-generation Chinese family with cardiac conduction abnormalities and sudden death[1].

    We recently id...

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  • HGMD - Towards A Comprehensive Central Mutation Database.
    Peter D Stenson
    Dear Editor

    We write in response to a number of very specific criticisms of the Human Gene Mutation Database (HGMD) made in the recently published article of George et al. [PMID: 17893115]. All seven claims made were amenable to empirical testing. Having tested these claims, we find all of them to be either false or highly misleading. In the text that follows, we refute or rebut each claim in turn.

    HGMD represents an...

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  • Anthropometric evaluation of children with SHOX mutations
    Alexander A. L. Jorge

    Dear Editor

    In their recent article, Rappold et al. (1) investigated the presence of SHOX defects in a large cohort of 1,608 short stature children, and found 58% of SHOX mutations/deletions in 55 children with Leri-Weill dyschondrosteosis (LWD) and 2.2% in 1,534 cases considered to have idiopathic short stature. The authors created an evidence-based scoring system based on clinical grounds obtained from the 68 patien...

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  • Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
    D Gareth Evans
    Dear Editor

    We wish to reply to the interesting comments concerning our paper on phenocopies in families positive for mutations in BRCA1/2 genes since its e publication in October 2006 [1]. We understand the reservations about changing practice in reassuring individuals who test negative for a family mutation based on one largely retrospective analysis of families and clearly there is a need to confirm our results in other l...

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  • Phenocopies: actual risk or self-fulfilling prophecy?
    Francois Eisinger

    Dear Editor

    The contribution of Smith et al 1 regarding the risk cancer in women who test negative for a known familial BRCA mutation is extremely valuable for both clinicians and researchers, and deserves critical attention. Indeed, not only the current NICE guidelines but most other statements on inherited risk for breast and ovarian cancer suggest reassurance for relatives found to be free of a familia...

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  • BRCA Phenocopies or Ascertainment Bias?
    David E Goldgar

    Dear Editor:

    In a recent issue of the Journal of Medical Genetics, Smith et al (1) report a significantly elevated risk of breast cancer among non-carriers in breast cancer families in which a BRCA1 or BRCA2 mutation had been identified through clinical testing. The authors found an elevated risk of approximately 5-fold, which, if true, has considerable impact on the counseling and clinical management of wom...

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  • No screening yet after a negative test for the family mutation
    Madeleine M Tilanus-Linthorst

    Dear Editor

    In their interesting paper (1) A. Smith and colleagues postulate, that after a negative test for BRCA1 and BRCA2 women are still at increased risk. They therefore recommend to continue screening. There are several reasons why surveillance recommendations, after a negative test for the family mutation, are premature I think.

    1. It should be clear how high the rest risk is: This is not really cl...

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