eLetters

41 e-Letters

published between 2003 and 2006

  • Pitfalls of comparative sequence analysis as a single platform for routine clinical testing for NF1
    Ludwine M. Messiaen

    Dear Editor

    Mattocks et al [1] have used direct DNA sequencing and comparative sequence analysis to study NF1 patients and claim this study “achieved the highest recorded mutation detection rate using a single technique for this gene”. As a key point, the paper states that they studied 91 subjects fulfilling the NIH NF1 diagnostic criteria and achieved a mutation detection rate of 89% using automated comparative...

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  • Caveats About Coloboma
    Brian P Brooks

    Dear Editors

    We very much enjoyed reading the review article by Gregory-Evans et al. on coloboma in the December issue of the Journal of Medical Genetics. The authors should be commended on the most thorough treatment of the subject in the clinical genetics literature to date. In reading it, however, we thought there were a few additional points that required clarification.

    The first is the use of t...

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  • Reply to: "Diagnostic criteria of forme fruste keratoconus"
    Antonio Pizzuti

    Dear Editor              

    We thank the authors for their comments on our Letter to the Editor describing a novel locus for autosomal dominant keratoconus on chromosome 3 [1]. We thoroughly agree with the author’s opinion that simple astigmatism should not be considered a diagnostic criteria for forme fruste KC. However, none of our 4 patients diagnosed with forme fruste KC had simple astigmatism. In these patients, t...

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  • Authors' reply
    Qing Wang

    Dear Editor

    Chen et al. identified R1193Q, a single nucleotide polymorphism (SNP) in the cardiac sodium channel gene SCN5A, in a group of Han Chinese individuals. The frequency of SNP R1193Q in this Chinese population is high, reaching 12% (11/94) [1]. The results confirm our earlier report that SNP R1193Q is present in the general population [2]. SNP R1193Q occurs within the context of a CpG dimer. Because the major...

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  • Diagnostic criteria of forme fruste keratoconus.
    Petra Liskova

    Dear Editor

    We would like to comment on the letter describing linkage analysis in autosomal dominant keratoconus presented by Brancati et al. in the March issue of JMG [1]. The pedigree includes 4 patients with forme fruste keratoconus and Figure 2 shows the videokeratography of patient III:9 to support this diagnosis. However, from the data presented this patient appears to have unilateral simple astigmatism, whi...

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  • R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
    Yuan-Tsong Chen


    Dear Editor

    Recently, Wang et al. [1] reported R1193Q mutation of SCN5A in one of the 7 patients with acquired long QT syndrome (LQTS) and suggested that R1193Q is a functional mutation that can increase the susceptibility to LQTS. The authors fo...

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  • Another family with multiple epiphyseal dysplasia harboring the R718W mutation in COMP
    Shiro Ikegawa

    Dear Editor

    We read with interest a recent report in your journal by Jakkula et al.[1] on two families of multiple epiphyseal dysplasia (MED) with the recurrent R718W mutation in COMP.

    Key points of the report are:
    1) In a family (family 1), two children presented with muscular weakness and all four family members with R718W showed moderate rise in plasma creatine kinase...

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  • Re: Breast cancer risk prediction models
    D Gareth Evans

    Dear Editor

    We thank Dr Selvan for his comments [1] on our paper.[2] Cyrillic 3 does indeed use the BRCAPRO and MENDEL models. With regards to our use of BRCAPRO, we would like to draw his attention to the official Cyrillic 3 homepage [3] where it states clearly that the BRCAPRO plug-in calculates risk based on the “Bayes’ rules of determination of the probability of a mutation, given family history. An estimate of th...

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  • Breast cancer risk prediction models
    Mano S Selvan

    Dear Editor

    I would like to bring to your attention an error with respect to the original article by Amir et al.[1]

    The paper validated a few available breast cancer risk prediction models and compared them to the Tyrer-Cuzick model.[2] From the paper by Amir et al., I understand that they used the Cyrillic plug-in to estimate breast cancer risk (Cyrillic 3.1 Version). Although, I am only fa...

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  • Recurrent BRCA1 mutation among Malay breast/ovarian cancer patients
    Ann SG Lee

    Dear Editor

    We read with great interest the report by Sng et al. [1] in which the authors reported that the BRCA1 frameshift mutation 2845insA could be a founder mutation in Malay breast or ovarian cancer patients in Singapore. This mutation results in protein truncation at codon 914.

    We would like to take this opportunity to draw the readers’ attention to our work on BRCA1 mutations among Singapo...

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