A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy

A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy Publisher Pubmed

Naderi N¹ ; Mohsenpour N² ; Nilipour Y³ ; Pourirahim M¹ ; Maleki M¹ ; Kalayinia S¹

Show Affiliations

1. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, University of Medical Sciences, Tehran, Iran
2. Zanjan Pharmaceutical Biotechnology Research Center, Zanjan University of Medical Sciences, Zanjan, Iran
3. Pediatric pathology research center, Research institute for childrenâ€™s health, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: BMC Cardiovascular Disorders Published:2023

Abstract

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. © 2023, BioMed Central Ltd., part of Springer Nature.

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Style	Citing Format
MLA	Naderi N, et al.. "A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy." BMC Cardiovascular Disorders, vol. 23, no. 1, 2023, pp. -.
APA	Naderi N, Mohsenpour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S (2023). A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy. BMC Cardiovascular Disorders, 23(1), -.
Chicago	Naderi N, Mohsenpour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S. "A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy." BMC Cardiovascular Disorders 23, no. 1 (2023): -.
Harvard	Naderi N et al. (2023) 'A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy', BMC Cardiovascular Disorders, 23(1), pp. -.
Vancouver	Naderi N, Mohsenpour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S. A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy. BMC Cardiovascular Disorders. 2023;23(1):-.
BibTex	@article{ author = {Naderi N and Mohsenpour N and Nilipour Y and Pourirahim M and Maleki M and Kalayinia S}, title = {A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy}, journal = {BMC Cardiovascular Disorders}, volume = {23}, number = {1}, pages = {-}, year = {2023} }
RIS	TY - JOUR AU - Naderi N AU - Mohsenpour N AU - Nilipour Y AU - Pourirahim M AU - Maleki M AU - Kalayinia S TI - A Novel Heterozygous Missense Myh7 Mutation Potentially Causes an Autosomal Dominant Form of Myosin Storage Myopathy With Dilated Cardiomyopathy JO - BMC Cardiovascular Disorders VL - 23 IS - 1 SP - EP - PY - 2023 ER -

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