eLetters

104 e-Letters

  • 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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  • 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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