eLetters

107 e-Letters

  • 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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  • Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.
    Bert B.A. De Vries

    With great interest we read the article of Malan et al., who reported on a novel clinically recognizable 19q13.11 microdeletion syndrome.1 Here we report on a fifth patient with an interstitial deletion overlapping the 19q13.11 region and compare our findings with those described by Malan et al. The proband was born after 37 weeks of gestation as one of dizygotic twins with a birth weight of 1620 g (-3.5 SD). His twin sist...

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  • Re: dyslexia, music, and phonological awareness
    Irma E Järvelä

    We thank Kate Gladstone for the interest towards our study and answer to the comments as following:

    The statement that "an important predictor of dyslexia, phonological awareness, can be understood as poor auditory structuring ability applied to language" raises some questions for me. /1/ If dyslexia correlates with poor auditory structuring ability, it seems very strange that some alleles leading to dyslexia wo...

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  • dyslexia, music, and phonological awareness
    Kate Gladstone

    The statement that "an important predictor of dyslexia, phonological awareness, can be understood as poor auditory structuring ability applied to language" raises some questions for me.

    /1/ If dyslexia correlates with poor auditory structuring ability, it seems very strange that some alleles leading to dyslexia would also lead to musical ability. One would generally assume that musical ability would involve m...

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  • Intergenerational CAG repeat instability is highly heritable in Huntington's disease
    N. Ahmad Aziz
    We read with interest the article by Wheeler and coworkers who reported on factors associated with mutant CAG repeat instability in Huntington's disease (HD).1 Familial clustering appeared to be one of the factors involved as repeat instability was found to be correlated between siblings (r = 0.28).1 However, and surprisingly, the authors do not report on a far more sensitive and direct measure of heritabil...
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  • Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers.
    Paul A James

    To the Editor: Dear Sir

    We read with interest the study by Antoniou et al, [1] in which they compared a number of the described methods for assessing the probability that a BRCA1 or BRCA2 gene mutation is the cause of a family history of breast or ovarian cancer in 1934 families of non-Ashkenazi Jewish origin. In this study a number of methods, particularly the BOADICEA model, demonstrated a high degree of disc...

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  • 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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