eLetters

118 e-Letters

  • Should use a different statistical test
    Dr Hiamsnhu Goel

    Dear Editor,

    Hoffmann et al. have done a quite remarkable study on the assessment of response following treatment of the disorder like fabry disease which does not have any reliable biochemical marker. Since the author has assessed three times, it could be better to use repeated measures analysis by mixed model instead of using wilcoxon's rank sum test or student's t test.

  • Authors' response to Bowcock et al.
    James T. Elder

    Dear Editor,

    In response to the comments of Helms et al.: We recognize that in the presence of substantial heterogeneity, much larger sample sizes may be required to replicate an effect. Thus, we cannot rule out the possibility that the variants in the RUNX binding site and the RAPTOR gene make a substantial contribution to psoriasis susceptibility in some settings. Nevertheless, in our sample, which includes...

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  • Association of multiple risk factors for neonatal jaundice
    Hans L Van Rostenberghe

    Dear Editor

    In accordance with the findings reported by Kadakol et al. (1) we found in a population study,(2) done in Malays, two cases of neonatal jaundice (NNJ)with a combination of a mutation in the encoding region of the UGT1A1 gene and the classical Gilbert syndrome mutation.

    These two patients had severe early onset NNJ, only slowly responding to intensive phototherapy. Both babies had a normal G...

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  • Compound and double mutations in patients with hypertrophic cardiomyopathy
    Ajay Bahl

    Dear Editor,

    This paper by Ingles et al. has once again highlighted the role of compound and double mutations in patients with hypertrophic cardiomyopathy (HCM).[1] They detected compound or double mutations in 4 of 23 (17%) of probands found to have mutations in the genes that were screened. This large percentage of compound mutations has serious implications for any HCM mutation screening programme. Mutations in...

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  • PCR-RFLP assay for W24X mutation detection in non-syndromic hearing loss subjects
    Madhu Khullar

    Dear Editor,

    We are studying the genetic basis of non-syndromic hearing loss in North Indian population and we performed the PCR-RFLP assay described by authors for the detection of W24X mutation in this article. The assay was carried out using the primers (1F and 1R) and the restriction enzyme Alu1, as described by the authors. However, we have observed a distinctly different RFLP pattern for this mutation as compared...

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  • Type 1 diabetes association with OAS1: Splice site SNP is best functional candidate
    L. Leigh Field

    Dear Editor,

    We read with interest the recent article in the J Med Genet by Tessier et al.[1] confirming our report[2] of association between type 1 diabetes and the 2´5´-oligoadenylate synthetase OAS1 antiviral gene. However, their conclusion differs from ours concerning which single nucleotide polymorphism (SNP) in OAS1 is most likely to produce the functional effect on diabetes predisposition – the exon 3 non-...

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  • Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis
    Anne M. Bowcock

    Dear Editor,

    In the recently published report "Analysis of RUNX1 Binding Site and RAPTOR Polymorphisms in Psoriasis: No Evidence for Association Despite Adequate Power and Evidence for Linkage"[1] the authors report failure to see association of psoriasis susceptibility to a region of chromosome 17q25. This region was first identified with linkage analysis by our group[2], and we recently reported evidence for a...

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  • Absence of Association of CDKN2A Ala148Thr with Breast Cancer
    Irene Orlow
    Dear Editor,

    In a recent article, Debniak et al. have reported data from a case-control study of breast cancer in Poland in which a modest association was observed between breast cancer incidence and the A148T polymorphism in the CDKN2A gene. They observed an odds ratio of 1.3 overall, and an odds ratio of 3.8 for patients diagnosed prior to age 30. The variant was present in 5.1% of cases, versus 3.5% of controls. Their co...

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  • Focus on bile acid synthesis genetic defects.
    Emmanuel Gonzales

    Dear Editor,

    We have read with great interest the excellent review entitled: "Genetics of familial intrahepatic cholestasis syndromes" by van Mil S. W. C. and collaborators, and published in the last issue of Journal of Medical Genetics. [1] In an attempt to complete this very exhaustive review, we wished to make a few comments:

    - concerning delta4-3-Oxosteroid-5beta reductase (AKR1D1) deficiency, since t...

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  • Relationship of androgenetic cell distribution to phenotype in androgenetic/biparental mosaicism:
    Rosemary A Fisher

    Dear Editor,

    We read with interest the paper of Kaiser-Rogers et al. [1] in which they describe two cases of androgenetic/biparental mosaicism. In their study both cases exhibited the clinicopathological phenotype of placental mesenchymal dysplasia (PMD) and in both cases the androgenetic cells were almost exclusively restricted to the mesenchymal components of the villi, the overlying trophoblast apparently bein...

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