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A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K, Wang X, Wang WQ, Han MY, Hu LM, Kang DY, Yang JY, Liu M, Gao X, Yuan YY, Xu JC. Yang K, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2103. doi: 10.1002/mgg3.2103. Epub 2022 Nov 14. Mol Genet Genomic Med. 2023. PMID: 36373990 Free PMC article. Review.
The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life. ...Ile500Val) in SMAD4 was detected confirming the clinical diagnosis of Myhre syndrome at the age of 38 days. The infant appears to be th …
The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life. ...Ile500Val …
A pilot clinical trial with losartan in Myhre syndrome.
Cappuccio G, Caiazza M, Roca A, Melis D, Iuliano A, Matyas G, Rubino M, Limongelli G, Brunetti-Pierri N. Cappuccio G, et al. 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.
INTRODUCTION: Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-beta pathway and extra-cellular matrix (ECM) homeostasis. ...MATERIALS AND METHODS: Four molecularly confirmed MS subje …
INTRODUCTION: Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protei …
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE. Starr LJ, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):611-623. doi: 10.1177/10935266221079569. Epub 2022 Sep 17. Pediatr Dev Pathol. 2022. PMID: 36120950
Results: Examination of patient tissues documents cellular fibroproliferation and deposition of excessive extracellular matrix explaining some of the observed clinical features of Myhre syndrome. Conclusion: Excessive fibrosis is noted in multiple tissues, es …
Results: Examination of patient tissues documents cellular fibroproliferation and deposition of excessive extracellular matrix explaining so …
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Lin AE, et al. Am J Med Genet A. 2020 Feb;182(2):328-337. doi: 10.1002/ajmg.a.61430. Epub 2019 Dec 14. Am J Med Genet A. 2020. PMID: 31837202
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function pathogenic variants in SMAD4. ...We describe six patients (two not previously reported) with molecularly confirmed Myhre syndrome …
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function …
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). Although closely similar, they can be distinguished by subtle clinical features and their patter …
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia ( …
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
Jeon MJ, Kim MJ, Kim JH, Park JS, Yim J, Kim M, Kwon SK, Lee S, Ko JM, Chae JH, Suh DI. Jeon MJ, et al. Pediatr Allergy Immunol Pulmonol. 2021 Jun;34(2):83-87. doi: 10.1089/ped.2021.0029. Pediatr Allergy Immunol Pulmonol. 2021. PMID: 34143683 Free PMC article.
Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients w …
Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. …
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, di Rocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Le Goff C, et al. Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016. Nat Genet. 2011. PMID: 22158539
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. ...We also observed decreased expression of downstream TGF-beta target genes, …
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphi …