Skip to main content

Advertisement

SpringerLink
Log in

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

  • Letter to the Editor
  • Published:
GeroScience Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  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. 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.

    Article  CAS  PubMed  Google Scholar 

  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. 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  Google Scholar 

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

  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. 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

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

Author information

Authors and Affiliations

  1. Medical Genetics, Department of Pediatrics, Massachusetts General Hospital for Children, Boston, MA, USA

    Angela E. Lin

  2. Department of Translational Medicine, Federico II University of Naples, Naples, Italy

    Nicola Brunetti-Pierri

  3. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy

    Nicola Brunetti-Pierri

  4. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Bert Callewaert

  5. Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

    Bert Callewaert

  6. Clinical Genetics, Paris Centre University, INSERM UMR 1163, Imagine Institute, Hôpital Necker enfants, Malades, Paris, France

    Valérie Cormier-Daire

  7. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway

    Sofia Douzgou

  8. Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester, England

    Sofia Douzgou

  9. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK

    Sofia Douzgou

  10. Pediatric Pulmonary, Department of Pediatrics, Massachusetts General Hospital for Children, Boston, MA, USA

    T. Bernard Kinane

  11. Cardiovascular Genetics Program, Division of Cardiology and Pediatric Cardiology, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Boston, MA, USA

    Mark E. Lindsay

  12. Medical Genetics, Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA

    Lois J. Starr

Authors
  1. Angela E. Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Nicola Brunetti-Pierri
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bert Callewaert
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Valérie Cormier-Daire
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sofia Douzgou
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. T. Bernard Kinane
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Mark E. Lindsay
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Lois J. Starr
    View author publications

    You can also search for this author in PubMed Google Scholar

Consortia

the Myhre Syndrome Foundation Professional Advisory Board

Contributions

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

Corresponding author

Correspondence to Angela E. Lin.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

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 43, 459–461 (2021). https://doi.org/10.1007/s11357-021-00337-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11357-021-00337-x

Search

Navigation