Myhre syndrome
- PMID: 24580733
- DOI: 10.1111/cge.12365
Myhre syndrome
Abstract
Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (LAPS) cases supports that LAPS and MS are a unique entity. The long-term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are de novo and changing in the majority of cases Ile500, located in the MH2 domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via TGFβ target genes in patient fibroblasts. Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity.
Keywords: LAPS; Myhre; SMAD4; follow up.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Similar articles
-
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
-
Myhre syndrome with facial paralysis and branch pulmonary stenosis.Clin Dysmorphol. 2015 Apr;24(2):84-5. doi: 10.1097/MCD.0000000000000068. Clin Dysmorphol. 2015. PMID: 25486016 No abstract available.
-
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016. Nat Genet. 2011. PMID: 22158539
-
Myhre syndrome: a report of six Chinese patients and literature review.Clin Dysmorphol. 2019 Jul;28(3):145-150. doi: 10.1097/MCD.0000000000000271. Clin Dysmorphol. 2019. PMID: 30921096 Review. No abstract available.
-
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Cited by
-
Smad4 regulates growth plate matrix production and chondrocyte polarity.Biol Open. 2017 Mar 15;6(3):358-364. doi: 10.1242/bio.021436. Biol Open. 2017. PMID: 28167493 Free PMC article.
-
A pilot clinical trial with losartan in Myhre syndrome.Am J Med Genet A. 2021 Mar;185(3):702-709. doi: 10.1002/ajmg.a.62019. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369056 Free PMC article. Clinical Trial.
-
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.Mol Syndromol. 2020 Jan;10(6):339-343. doi: 10.1159/000504829. Epub 2019 Dec 20. Mol Syndromol. 2020. PMID: 32021609 Free PMC article.
-
Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole.Front Pediatr. 2021 Jul 29;9:675934. doi: 10.3389/fped.2021.675934. eCollection 2021. Front Pediatr. 2021. PMID: 34395338 Free PMC article.
-
Myhre syndrome: the first case in Korea.Ann Pediatr Endocrinol Metab. 2021 Sep;26(3):210-214. doi: 10.6065/apem.2040214.107. Epub 2021 May 12. Ann Pediatr Endocrinol Metab. 2021. PMID: 34015905 Free PMC article.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous
