Key result
A novel heterozygous missense variant, MYH7 c.C1888A: p.Pro630Thr, was identified as the likely cause of an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
Why the study?
The clinical spectrum of MYH7-mutated myosin storage myopathy is heterogeneous, ranging from cardiomyopathies to skeletal myopathies or both depending on the affected region.
Case Report (n=3)
No
The identification of a novel MYH7 missense mutation (p.Pro630Thr) in a patient with myosin storage myopathy and dilated cardiomyopathy expands the genotypic and phenotypic spectrum of MYH7-related diseases.
MYH7-related MSM with dilated cardiomyopathy in one family warrants cardiac screening; leaves open variant pathogenicity and phenotype spectrum.
BACKGROUND: The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a combination of both, depending on the affected region. In this study, we performed clinical and molecular examinations of the proband of an Iranian family with MSM in an autosomal dominant condition exhibiting proximal muscle weakness and dilated cardiomyopathy. METHODS: Following thorough clinical and paraclinical examinations, whole-exome sequencing `was performed on the proband (II-5). Pathogenicity prediction of the candidate variant was performed through in-silico analysis. Co-segregation analysis of the WES data among the family members was carried out by PCR-based Sanger sequencing. RESULTS: A novel heterozygous missense variant, MYH7 (NM_000257): c.C1888A: p.Pro630Thr, was found in the DNA of the proband and his children and confirmed by Sanger sequencing. The in-silico analysis revealed that p.Pro630Thr substitution was deleterious. The novel sequence variant fell within a highly conserved region of the head domain. Our findings expand the spectrum of MYH7 mutations. CONCLUSIONS: This finding could improve genetic counseling and prenatal diagnosis in families with clinical manifestations associated with MYH7-related myopathy.
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Naderi et al. (2023) conducted a case report in Myosin storage myopathy with dilated cardiomyopathy (n=3). MYH7 c.C1888A: p.Pro630Thr mutation was evaluated on Identification of pathogenic genetic variant. A novel heterozygous missense variant, MYH7 c.C1888A: p.Pro630Thr, was identified as the likely cause of an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
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