eLetters

118 e-Letters

  • 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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  • C677T MTHFR frequencies in different Canadian Provinces.
    Natalie K Björklund

    Dear Editor

    Wilcken et al, (2003), in “Geographical and ethnic variation of the 677C>T allele of the 5,10 methylenetetrahydrofolate reductase (MTHFR): finds from over 7000 newborns from 16 areas worldwide” showed that the TT genotype in Calgary, Alberta was present in 5.8% of newborns as compared to one previous report from Quebec of 11% [Infante-Rivard et al., 2003]. The authors did not explain why this...

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  • Normal or increased melanocyte numbers are found in the pigmented macules in both Peutz-Jeghers sy
    Philip J Hampton

    Dear Editor

    In their letter Ayoub et al. suggest that Peutz-Jeghers Syndrome (PJS) can be distinguished from Laugier Hunziker Syndrome (LHS) by histological examination of the pigmented macules[1] and suggest that the pigmented macules in PJS are histologically lentigos showing increased numbers of normal melanocytes whereas in LHS the histology shows no increase in melanocyte numbers. They support their ar...

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  • Treatment of Smith-Magenis syndrome as an advanced sleep phase syndrome
    Hélène de Leersnyder

    Dear Editor

    We read with attention and interest the eLetter by Been et al.[1] We would like to reply.

    We agree with the author that Smith-Magenis syndrome (SMS) may be may be an extremely advanced sleep phase syndrome. The definition of this advanced sleep phase syndrome is based actually on clinical evaluation and melatonin dosages. A mutation of Perclock gene was found in families with familial...

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