Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures Pterygia and Spondylocarpotarsal Fusion Syndrome 1A).
Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions.
our patient is the first reported case of a child with classical FSS caused by a common MYH3 mutation who has an unaffected mother with molecularly proven somatic mosaicism who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing when a clinically apparent de novo diagnosis is suspected in a child.
developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein
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