Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion,...

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Veröffentlicht in:	BMC medical genetics Jg. 18; H. 1; S. 105 - 7
Hauptverfasser:	Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 19.09.2017 BioMed Central Ltd BMC
Schlagworte:	Age Amino acids Axial muscle atrophy Bioinformatics Biomedical and Life Sciences Biomedicine Biopsy Cardiac Myosins - genetics Cardiomyopathy Case Report Case reports Clinical-Molecular Genetics and Cytogenetics Cytogenetics Defects Distal Myopathies - diagnostic imaging Distal Myopathies - genetics Elongation Family medical history Gene Function Gene mutations Genetic counseling Genetic Predisposition to Disease Genetic Variation Human Genetics Humans Kinases Light Male Middle Aged Muscle, Skeletal - pathology Muscles Muscular Diseases - congenital Muscular Diseases - diagnostic imaging Muscular Diseases - genetics Musculoskeletal system Mutation MYH7 MYH7 gene Myopathies, Structural, Congenital - diagnostic imaging Myopathies, Structural, Congenital - genetics Myopathy Myosin Myosin Heavy Chains - genetics Myosin storage myopathy Neck Ophthalmoplegia - diagnostic imaging Ophthalmoplegia - genetics Phenotype Physiology Proteins Ryanodine Receptor Calcium Release Channel - deficiency Ryanodine Receptor Calcium Release Channel - genetics Stop loss mutation Stop loss mutation Myosin storage myopathy Case report Axial muscle atrophy MYH7
ISSN:	1471-2350, 1471-2350
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Zusammenfassung:	Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7 . Pathogeneses of the defects in the head and proximal rod region of the protein are well described. However, the C-terminal mutations of the MYH7 gene are less known. Moreover, only two articles describe the phenotypic impact of the elongated mature protein product caused by termination signal loss. Case presentation Here we present a male patient with an unusual phenotypic variant of early-onset and predominant involvement of neck muscles with muscle biopsy indicating myopathy and sarcoplasmic storage material. Cardiomyopathic involvements could not be observed. Sequencing of MYH7 gene revealed a stop-loss mutation on the 3-prime end of the rod region, which causes the elongation of the mature protein. Conclusions The elongated protein likely disrupts the functions of the sarcomere by multiple functional abnormalities. This elongation could also affect the thick filament degradation leading to protein deposition and accumulation in the sarcomere, resulting in the severe myopathy of certain axial muscles. The phenotypic expression of the detected novel MYH7 genotype could strengthen and further expand our knowledge about mutations affecting the structure of MyHCI by termination signal loss in the MYH7 gene.
Bibliographie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1471-2350 1471-2350
DOI:	10.1186/s12881-017-0463-y