123 e-Letters

  • Response to: Reardon et al. J Med Genet 2001; 38: 820-823.
    Robin Winter

    Dear Editor,

    The single case report of a child with features of VATER association and a PTEN mutation by Reardon et al., (2001) is certainly a significant contribution to the literature. I am going to highlight it prominently in the London Dysmorphology Database (Winter and Baraitser, 2001) (ver. 3 with significant enhancements now available from Oxford University Press). However the case report is somewhat puz...

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  • Nance-Horan syndrome and isolated X-linked cataracts
    Annick Toutain

    Dear Editr

    I read with great interest this article on the mapping of an isolated form of X-linked cataract on Xp22. As the authors state it is highly probable that the condition in this family is an allelic form of Nance- Horan syndrome (NHS) or cataract-dental syndrome. Although OMIM database distinguishes NHS (MIM 302350) from two forms of isolated X-linked congenital cataract - X-linked congenital cataract with po...

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  • Importance of Blinded Comparisons
    Carol L. MacLeod

    Dear Editor

    Although I lack expertise in screening methods designed to detect the presence of mutations that predispose to disease, the findings reported on BRCA1 by Eng et al. are clearly important. It is essential that a systematic blinded comparison of methods should be carried out to establish or confirm the validity of genetic screening tests. This is of particular importance in cases where the predisposing ris...

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