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Het Bloom-syndroom in Nederland

Klinisch overzicht van een nationaal cohort

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Tijdschrift voor Kindergeneeskunde

Samenvatting

Doel. Het beschrijven van de klinische en moleculair-genetische karakteristieken van patiëntn met het Bloom-syndroom (BS ) in Nederland in vergelijking met het internationale cohort BS-patiënten van de Bloom’s Syndrome Registry (BSR).

Patiënten. Voor deze studie werd contact gezocht met alle klinisch genetische centra in Nederland, waardoor 15 patiënten met BS werden geëdentificeerd. Van deze patiënten werden klinische en moleculair-genetische gegevens verzameld en vergeleken met de publiekelijk beschikbare data van de 256 patiënten uit de BSR.

Conclusie. We concluderen dat de prevalentie van maligniteiten en niet-insulineafhankelijke diabetes mellitus bij BS-patiënten in Nederland wat lijkt te verschillen ten opzichte van het BSR-co-hort. We beschrijven een maligniteit (rabdomyosarcoom) die niet eerder beschreven werd bij patiëntn met BS en rapporteren twee niet eerder beschreven mutaties.

Summary

Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom’s Syndrome Registry (BSR).

Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR.

Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR.We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.

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Authors and Affiliations

  1. afdeling Kinderoncologie, Emma Kinderziekenhuis AMC, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands

    S.M.J. Hopman &  J.H.M. Merks

  2. afdeling Klinische Genetica, LUMC, Leiden, The Netherlands

    E.K. Bijlsma

  3. afdeling Maagdarm-leverziekten, Antoni van Leeuwenhoek Ziekenhuis, Amsterdam, The Netherlands

    H. Boot

  4. afdeling Klinische Genetica, AMC, Amsterdam, The Netherlands

    A.C. Knegt &  I. Kluijt

  5. afdeling Kindergeneeskunde, Isala klinieken, Zwolle, The Netherlands

    V. Langenhorst

  6. afdeling Kindergeneeskunde, Radboudumc, Nijmegen, The Netherlands

    M.H.D. Schoenaker &  C.M. Weemaes

  7. afdeling Klinische Genetica, VUmc, Amsterdam, The Netherlands

    K.E. Stuurman &  P.J.G. Zwijnenburg

  8. afdeling Klinische Genetica, UMCG, Rijksuniversiteit Groningen, Groningen, The Netherlands

    J.B.G.M. Verheij

  9. afdeling Klinische Genetica, Erasmus MC, Rotterdam, The Netherlands

    A. Wagner

  10. afdeling Kinderoncologie, Erasmus MC-Sophia Kinderziekenhuis, Rotterdam, The Netherlands

    E. Michiels

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  1. S.M.J. Hopman
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  2. J.H.M. Merks
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  8. K.E. Stuurman
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  14. I. Kluijt
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Correspondence to S.M.J. Hopman.

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Auteurs

Mw. drs. Saskia M.J. Hopman en dhr. dr. Johannes (Hans) H.M. Merks, afdeling Kinderoncologie, Emma Kinderziekenhuis AMC, Amsterdam. Mw. dr. Emilia K. Bijlsma, afdeling Klinische Genetica, LUMC, Leiden. Dhr. dr. Henk Boot, afdeling Maagdarm-leverziekten, Antoni van Leeuwenhoek Ziekenhuis, Amsterdam. Mw. dr. A. (Lia) C. Knegt, afdeling Klinische Genetica, AMC, Amsterdam. Mw. dr. Veerle Langenhorst, afdeling Kindergeneeskunde, Isala klinieken, Zwolle. Dhr. Michiel H.D. Schoenaker, afdeling Kindergeneeskunde, Radboudumc, Nijmegen. Mw. drs. Kyra E. Stuurman, afdeling Klinische Genetica, VUmc, Amsterdam. Mw. drs. Joke B.G.M. Verheij, afdeling Genetica, Rijksuniversiteit Groningen, UMCG, Groningen. Mw. dr. Anja Wagner, afdeling Klinische Genetica, Erasmus MC, Rotterdam. Mw. dr. Corry M. Weemaes, afdeling Kindergeneeskunde, Radboudumc, Nijmegen. Mw. dr. Petra Zwijnenburg, afdeling Klinische Genetica, VUmc, Amsterdam. Mw. dr. Erna Michiels, afdeling Kinderoncologie, Erasmus MC-Sophia Kinderziekenhuis, Rotterdam. Mw. drs. Irma Kluijt, afdeling Klinische Genetica, AMC, Amsterdam.

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Hopman, S., Merks, J., Bijlsma, E. et al. Het Bloom-syndroom in Nederland. TIJDSCHR. KINDERGENEESKUNDE 81, 148–158 (2013). https://doi.org/10.1007/s12456-013-0178-8

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