eLetters

111 e-Letters

  • 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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  • 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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