Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification

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References

  1. 1.

    Kandhaya-Pillai R, Hou D, Zhang J, Yang X, Compoginis G, Mori T, et al. SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome. Geroscience. 2021. https://doi.org/10.1007/s11357-020-00318-6.

  2. 2.

    Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, et al. Novel SMAD4 mutation causing Myhre syndrome. Am J Med Genet A. 2014;164A(7):1835–40. https://doi.org/10.1002/ajmg.a.36544.

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Hennekam RCM. Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. Eur J Med Genet. 2020;63(11):104028. https://doi.org/10.1016/j.ejmg.2020.104028.

    Article  PubMed  Google Scholar 

  4. 4.

    Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, et al. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet. 2014;22(11):1272–7. https://doi.org/10.1038/ejhg.2013.288 Erratum in: Eur J Hum Genet. 2014 Nov;22(11):1340.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  5. 5.

    Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, et al. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020;182(2):328–37. https://doi.org/10.1002/ajmg.a.61430.

    CAS  Article  PubMed  Google Scholar 

  6. 6.

    Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, et al. Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum. Am J Med Genet A. 2019;179(12):2494–9.

    CAS  Article  Google Scholar 

  7. 7.

    Hennekam RCM. The external phenotype of aging. Eur J Med Genet. 2020. https://doi.org/10.1016/j.ejmg.2020.103995.

  8. 8.

    Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, et al. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. Am J Med Genet A. 2015;167A:2893–901. https://doi.org/10.1002/ajmg.a.37273.

    Article  PubMed  Google Scholar 

  9. 9.

    Oshima J, Hisama FM. Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome. Gerontology. 2014;60:239–46. https://doi.org/10.1159/000356030.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  10. 10.

    Hisama FM, Oshima J, Martin GM. How research on human progeroid and antigeroid syndromes can contribute to the longevity dividend initiative. Cold Spring Harb Perspect Med. 2016;6(4):a025882. https://doi.org/10.1101/cshperspect.a025882.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

The authors appreciate the support of the Myhre Syndrome Foundation (MSF) with whom the Professional Advisory Board has a thriving partnership.

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AEL conceived the paper; all other authors contributed to the writing and review.

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Correspondence to Angela E. Lin.

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Lin, A.E., Brunetti-Pierri, N., Callewaert, B. et al. Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification. GeroScience (2021). https://doi.org/10.1007/s11357-021-00337-x

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