eLetters

111 e-Letters

  • NONO mutations and non compaction cardiomyopathy
    Eyal Reinstein

    The association has been described before but is not cited in the JMG manuscript

    Eur J Hum Genet. 2016 Jun 22. doi: 10.1038/ejhg.2016.72.

    Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

    Conflict of Interest:

    None declared

  • Re:A p.R464 H variation in the CCDC88C gene may not cause a dominant form of spinocerebellar ataxia
    Edwin Ho-Yin Chan

    To the Editor of Journal of Medical Genetics:

    Enabled by recent advances in sequencing technologies, genotypes from thousands of individuals are now available in online databases. While most of them aim to be the reference source of genotypes from healthy individuals, however, due to the lack of accompanying clinical data, geneticists now face the challenge of separating pathogenic mutations and rare polymorphisms. The fr...

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  • A p.R464 H variation in the CCDC88C gene may not cause a dominant form of spinocerebellar ataxia
    Yoshihisa Takiyama

    To the editor:

    The report that a novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia that appeared in your Journal (1) is of great interest. Although we identified the same heterozygous missense variation (c.1391G>A, p.R464H) as that reported (1) in a Japanese patient with autosomal dominant cerebellar ataxia (ADCA), we report here that this varia...

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  • Re:The putative role of Podxl in autosomal-recessive juvenile Parkinsonism
    B K. Thelma

    Response to e letter ID jmedgenet el; 2826 by Refaeli et al., dated June14, 2016 A considerable amount of literature on the role of podocalyxin-like (PODXL) protein in normal mammalian kidney functions and to a lesser extent in mouse brain development is available. We agree that these studies particularly, "Anuria, Omphalocele, and Perinatal Lethality in Mice Lacking the Cd34-Related Protein Podocalyxin" by Doyonnas et...

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  • The putative role of Podxl in autosomal-recessive juvenile Parkinsonism
    Kelly M McNagny

    Re:

    Sudhaman, et al. Discovery of a frameshift mutation in podocalyxin- like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism. J Med Genet. 0:1-7, 2016.

    In the February 2016 edition of the Journal of Medical Genetics, Sudhaman et al(1) report the identification of a PODXL variant (c.89_90insGTCGCCCC) as the causative mutation in an Indian fam...

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  • Against all odds
    June Strada

    I just read the articles on SMA1, SMA2, SMA3. I felt it important to tell you of my son, born 1/26/70. When I took him to his first checkup at 3 months old, I voiced my concern for his floppy head. Again at 6 months old, when he couldn't sit up, roll over, kick against resistance. Finally, the Pediatrician agreed to get an appointment with Yale Hospital in CT at 8 mos. The biopsy was shown to be SMA 1. We weren't given...

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  • Writing complementary material
    Eric Lichtfouse

    I wish to thank the authors of the review (1) of my book on scientific writing (2). Here are further free documents for authors: the Micro-Article, described in the book, is a template allowing to identify the main discovery before starting to write an article (3). Writing a Review Article in 7 Steps is a short note providing guidelines to write a review or a book chapter (4). This note proposes in particular a convenie...

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  • Writing complementary material
    Eric Lichtfouse

    I wish to thank the authors of the review (1) of my book on scientific writing (2). Here are further free documents for authors: the Micro-Article, described in the book, is a template allowing to identify the main discovery before starting to write an article (3). Writing a Review Article in 7 Steps is a short note providing guidelines to write a review or a book chapter (4). This note proposes in particular a convenie...

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  • PLK4: A novel candidate for primordial dwarfism
    Musharraf Jelani

    Letter to Editor Shaheen et al. 1 recently reported a homozygous 5 bps deletion mutation (c.1299_1303delTAAG; p.Phe433Leufs*6) in the human polo-like kinase 4 (PLK4,MIM 605031) gene and proposed that it is a compelling candidate for primordial dwarfism (PD). Autozygosity mapping and LOD score, method of estimating linkage distances, are adopted for the novel locus identification. Candidate gene hunting among 144 in the r...

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  • Role of Hypoxia Inducible Factor 2 and NFKB in lipodystrophy and Obesity
    Atif A Baig

    I have read all the respective article and I agreed to most of the findings. Recently, our group has been working with metabolomics towards lipodystropy and we did found similar findings. Recently it has been reported (Abael et al., 2010) that the changes in local thyroid hormone (TH) metabolism may occur in areas with lipoatrophy. These changes could be because of different molecular mechanisms (for example; levels of...

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