eLetters

120 e-Letters

  • 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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  • Extension of the SPG26 phenotype in a Spanish family and refinement of its locus on chromosome 12
    Pascale Ribai

    Dear Editor,

    Wilkinson et al. reported a Bedouin family in which five out of twelve siblings had a complicated form of autosomal recessive spastic paraplegia. They presented a uniform picture of early onset hereditary spastic paraplegia (HSP) that began at 6-11 years of age with dysarthria, distal wasting of the upper (UL) an...

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  • Defining clinical criteria for diagnostic molecular genetic testing in multiple endocrine neoplasia
    Bijay Vaidya

    Dear Editor,

    We read with great interest the paper of Cardinal and colleagues reporting findings of an Australian diagnostic MEN1 genetic testing service.1 Molecular genetic diagnosis of MEN1 has been possible since the identification of the MEN1 gene in 1997.2 In 2001, consensus guidelines outlining clinical criteria for MEN1 mutation testing were published.3 The gu...

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  • Ethical and practical issues related to newborn screening for hereditary haemochromatosis
    Martin B Delatycki

    Dear Editor,

    We read with interest the article by Cadet and colleagues in which the authors propose “reverse cascade screening” by newborn screening for HFE-related hereditary haemochromatosis as an efficient way of detecting affected adults.[1]

    Although HH is an ideal disease for which to undertake screening as it is common and easy to prevent [2] and there should not be concerns of insurance discrimina...

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  • Caution with genotype-phenotype conclusions in 22q11 Deletion Syndrome
    Anne S. Bassett

    Dear Editor,

    The conclusions of Rauch et al. [1] with respect to positive genotype-phenotype correlations in 22q11 Deletion Syndrome (22qDS) must be viewed with caution. They report on extensive fluorescence in situ hybridization (FISH) studies of 350 patients with features of 22qDS ascertained from 3 sources. Based on a case series of 3 subjects found to have distal (atypical) deletions that would not have been detecte...

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  • Multiple mechanisms and multiple populations
    Sumita Danda

    Dear Editor,

    We congratulate the authors for the very descriptive study of mechanisms implicated in the development of Sotos syndrome. The different mechanism studied in their population and comparison to the Japanese is very interesting. Their study group involves subjects mainly belonging to the UK, France, Germany, Italy, the USA and Australia. As there is no mention of the ethnic groups studied in the paper...

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  • Barakat Syndrome
    Amin J Barakat

    Dear Editor,

    I read with interest the article by Muroya et al. [1].

    The authors mention that the inherited condition of hypoparathyroidism, sensorineural deafness and renal dysplasia has been recognized as a distinct clinical entity since the report by Bilous et al. in 1992. In fact, this syndrome was described for the first time in 1977 by Barakat et al. [2]. The syndrome with presumed autosomal rec...

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  • Authors' reply
    Cheryl Y Gregory-Evans

    Dear Editors,

    We would like to thank Dr. Brooks and his colleagues for their interest in our article and their valuable remarks. As for the specific issues raised:

    We feel that this as a good time to redefine the use of terms associated with 'coloboma'. We would however suggest that this single word be used to encompass all entities rather than 'uveal coloboma' for two reasons. Firstly, 'uveal coloboma' is...

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  • 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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