Myhre syndrome
Definition:
Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.
References:
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[1]. Carine Le Goff, et al. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet. 2011 Dec 11;44(1):85-8. [Content Brief]
[2]. Viviana Caputo, et al. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet. 2012 Jan 13;90(1):161-9. [Content Brief]
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