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Xu, R. Myhre Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4409 (accessed on 27 September 2026).
Xu R. Myhre Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4409. Accessed September 27, 2026.
Xu, Rita. "Myhre Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4409 (accessed September 27, 2026).
Xu, R. (2020, December 23). Myhre Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4409
Xu, Rita. "Myhre Syndrome." Encyclopedia. Web. 23 December, 2020.
Myhre Syndrome
Edit

Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.

genetic conditions

References

  1. Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L,Grammatico P, Tartaglia M. Novel SMAD4 mutation causing Myhre syndrome. Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544.
  2. Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E,Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G,Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am JHum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011.
  3. Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S,Iughetti L, Unger S, Superti-Furga A, Tartaglia M. Natural history andlife-threatening complications in Myhre syndrome and review of the literature.Eur J Pediatr. 2016 Oct;175(10):1307-15. doi: 10.1007/s00431-016-2761-3.
  4. Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, diRocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Mutations at a single codon in Mad homology 2domain of SMAD4 cause Myhre syndrome. Nat Genet. 2011 Dec 11;44(1):85-8. doi:10.1038/ng.1016.
  5. Le Goff C, Michot C, Cormier-Daire V. Myhre syndrome. Clin Genet. 2014Jun;85(6):503-13. doi: 10.1111/cge.12365.
  6. Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, KlugmanS. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia inMyhre syndrome. Am J Med Genet A. 2020 Feb;182(2):328-337. doi:10.1002/ajmg.a.61430.
  7. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH,Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Gain-of-function mutations in SMAD4 cause adistinctive repertoire of cardiovascular phenotypes in patients with Myhresyndrome. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739.
  8. Lindor NM, Gunawardena SR, Thibodeau SN. Mutations of SMAD4 account for bothLAPS and Myhre syndromes. Am J Med Genet A. 2012 Jun;158A(6):1520-1. doi:10.1002/ajmg.a.35374.
  9. McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V,Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. Clinicalfeatures and respiratory complications in Myhre syndrome. Eur J Med Genet. 2011Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001.
  10. Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, JanssensS, Panzer J, Plasschaert F, De Wolf D, Callewaert B. Myhre syndrome: A firstfamilial recurrence and broadening of the phenotypic spectrum. Am J Med Genet A. 2019 Dec;179(12):2494-2499. doi: 10.1002/ajmg.a.61377.
  11. Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, DiRocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE,Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A,Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, vanden Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V.Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J HumGenet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288.Erratum in: Eur J Hum Genet. 2014 Nov;22(11):1340.
  12. Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA,Schaefer GB, Olney AH. Myhre syndrome: Clinical features and restrictivecardiopulmonary complications. Am J Med Genet A. 2015 Dec;167A(12):2893-901. doi:10.1002/ajmg.a.37273.
  13. Starr LJ, Lindor NM, Lin AE. Myhre Syndrome. 2017 Apr 13. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK425723/
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Update Date: 23 Dec 2020
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