121 e-Letters

  • 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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  • Comments on the revised Ghent nosology for Marfan syndrome
    Raoul C.M. Hennekam

    The Ghent criteria as proposed in 1996 are world-wide well accepted to define the diagnostic criteria for Marfan syndrome. The criteria are easy to use and work extremely well, shown by finding causative FBN1 Mutations in 97% of cases. Indeed this specificity of diagnostic criteria is amongst the highest reported in any syndromic entity. A large group of superb Marfan specialists have now suggested a revision of these cr...

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  • Reply to: The revised Ghent nosology for the Marfan Syndrome
    jan maarten cobben

    To the editor

    In the July issue, Loeys and colleagues present new diagnostic criteria for Marfan Syndrome (MFS) in their manuscript "The revised Ghent nosology for the Marfan Syndrome"[1]. After publication of these Revised Ghent Marfan criteria, a manuscript was published which in part supports their opinions[2]. After complimenting Loeys et.al. with the result of their multidisciplinary effort, we would like...

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