19 e-Letters

published between 2010 and 2013

  • RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
    Vera M. Kalscheuer

    Re: Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. J Med Genet. 2012 May;49(5):332- 40.

    With great interest we have read the article by B...

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  • Re:Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?
    Rosemary A Fisher

    Response to "Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?"

    Peter H Dixon and Rosemary A Fisher

    We thank Professor Slim for her interest in our article "Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles" [1]. We would like to confirm that, as stated in the methods...

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  • Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?
    Rima Slim

    We would like to comment on Dixon et al., 2012 who questioned the pathogenicity of private NLRP7 variants found in a heterozygous state in singleton cases with one to three hydatidiform moles. The interesting part of this work is in the analysis of nine patients with recurrent androgenetic moles despite that only reports demonstrating that three of these patients had had recurrent androgenetic moles are provided either in...

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  • Response
    pamela correia

    I think this is a wonderful article, especially since it presents path breaking evidence regarding the origins of the RAPSYN mutations. The subject of Congenital Myesthenic Syndromes is now getting its much needed attention, and such work will go a long way for this cause.

    Conflict of Interest:

    None declared

  • Mutational analysis of the SMA patients towards the diagnosis and clinical severity of the SMA
    Atif Baig

    We have read the entire paper with great care. We totally agree with the findings of the respected authors in this respective article. The article seems to be used by many researchers as a reference article so we need to update the status of SMA diagnosis for non deleted SMA patients. Many new approaches have been employed to diagnose non deleted SMA. One of such methods is long range PCR method (LR-PCR) (Clemont et al....

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  • Commentary on clinical utility of NOTCH2 sequencing analysis in Alagille syndrome
    Daniela Marchetti
    It was with great interest that we have read the recent article published by Kamath et al. [1] dealing with NOTCH2 mutations in patients affected by Alagille syndrome (ALGS) negative for JAG1 gene mutations and rearrangements. This original article brings relevant information about the mutation frequencies and genotype-phenotype data regarding NOTCH2 gene. Previously only two mutations, one missense and one splicing, have been rep...
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  • Analysis in yeast suggests that POLG p.G268A is neither a pathological mutation nor a neutral SNP
    Enrico Baruffini

    It was with great interest that I read the study by Tang and co- authors [1], in which they discovered twenty-five novel mutations in DNA polymerase gamma. Based on the presence of p.G268A substitution in heterozygosis in 19 subjects from a cohort of 2697 unrelated patients, they proposed to reclassify this mutation as a neutral polymorphism or a polymorphic modifier rather than a pathological mutation. Smith and co- auth...

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  • Circumscribing the clinical severity of Rubinstein-Taybi syndrome by CBP modulated genome expression
    Atif A Baig

    The respective article was well read by us. We agree with the precious scientific findings by the authors but at the same time we would like to recall the two very basic fundamental functions of CBP, which involve CBP as a bridging molecule and a cofactor (Montmini et al., 1986) for CREB modulated gene expression and histone acetyltransferase activity of CBP on CREB modulated gene expression (Lu et al., 2003) specificall...

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  • POLG p.G268A and p.G517V are not pathogenic mutations
    Conrad Smith

    In their recently published paper describing mutations in mitochondrial DNA polymerase gamma, Tang et al.(1) propose that the POLG p.G268A (c.803G>C) and p.G517V (c.1550G>T) variants which have previously been reported as pathogenic mutations should be considered as unclassified variants that may represent rare neutral polymorphisms or polymorphic modifiers.

    We have also identified these variants in our...

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  • The C-G single nucleotide polymorphism at -20 of the Connective Tissue Growth Factor (CTGF) gene is not present in a European Caucasoid population of patients with type 1 diabetes and nephropathy

    Re: Genetic variant in the promoter of connective tissue growth factor gene confers susceptibility to nephropathy in type 1 diabetes. Wang et al., J Med Genet 2010; 47:391-397. Doi:10,1136/jmg.2009.073098

    It was with great interest that we read the recent study by Wang et al. on a novel C/G single nucleotide polymorphism (SNP) at position -20 in the promoter of the connective tissue growth factor (CTGF) gene confe...

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