113 e-Letters

  • 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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  • Does c.892G>A missense point mutation (Gly298Arg) in MFN2 cause CMT-2A?
    Katalin Scherer

    It was with great interest that I read Casasnovas et al article "Phenotypic Spectrum of MFN2 Mutations in the Spanish Population". The authors mention the Gly298Arg mutation in one of their families, with 2 affected individuals, and state that this has previously been described. They refer to Lawson's 2005 article (Ref#10, Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutation...

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  • E-Cadherin (CDH1) exon deletion in lobular breast carcinoma
    William G Newman

    It was with great interest that we read the recent article by Schrader et al. on the low frequency of CDH1 mutations in early-onset and familial lobular breast cancer (1). As detailed by Schrader et al., the cancer syndrome hereditary diffuse gastric cancer (HDGC), in addition to a high risk of diffuse gastric cancer (DGC), is associated with an increased risk of lobular breast carcinoma, a specific histological subtype of...

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  • Re:Comments on the revised Ghent nosology for Marfan syndrome
    Bart L. Loeys

    We would like to thank Dr. Hennekam for his comments but would like to reply to several points made by him. We agree with Dr. Hennekam that there is a good correlation between the current nosology and the FBN1 mutation uptake, but an important goal for the new nosology is to make it simpler and more easily applicable (which is not always true for the current one). There is also an important focus on the cardiovascular a...

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  • Prophylactic mastectomy or surveillance?
    Hanneke W.M. van Laarhoven

    Bancroft et al. describe the successful establishment of a novel specialist clinic for BRCA1/2 mutation carriers. (1) The authors should be applauded for the introduction of this specialized, multi-disciplinary clinic. However, although their study provides elaborate data on numbers of patients followed in this clinic, it remains unclear what the information provision and guidance for decision-making in the multi- discipl...

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