ArticleOrphanet journal of rare diseases2013
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 50 citations in OpenAlex.
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- Analysis of the basement membrane-related genes ITGA7 and its regulatory role in periodontitis via machine learning: a retrospective study.BMC oral health · 2024Article
- STIGMA: Single-cell tissue-specific gene prioritization using machine learning.American journal of human genetics · 2024Article
- Left ventricular noncompaction in Ibadan, Nigeria.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2023Article
- Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.International journal of molecular sciences · 2023Article
- Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.Journal of the American Heart Association · 2022Article
- Circulating miR-499a-5p Is a Potential Biomarker ofInternational journal of molecular sciences · 2022Article
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- Integrating Genomic and Transcriptomic Data to Reveal Genetic Mechanisms Underlying Piao Chicken Rumpless Trait.Genomics, proteomics & bioinformatics · 2021Article
- Nonproductive Splicing Prevents Expression of MYH7b Protein in the Mammalian Heart.Journal of the American Heart Association · 2021Article
- Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (Frontiers in genetics · 2021Article
- A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.Scientific reports · 2020Article
- MYH7B variants cause hypertrophic cardiomyopathy by activating the CaMK-signaling pathway.Science China. Life sciences · 2020Article
- Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.International journal of molecular sciences · 2019Review
- Expression of Normally Repressed Myosin Heavy Chain 7b in the Mammalian Heart Induces Dilated Cardiomyopathy.Journal of the American Heart Association · 2019Article
- Congenital myopathies are mainly associated with a mild cardiac phenotype.Journal of neurology · 2019Article
- The ancient sarcomeric myosins found in specialized muscles.Skeletal muscle · 2019Review
- Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.Nature reviews. Cardiology · 2017Review
- Characterization of Somatically-Eliminated Genes During Development of the Sea Lamprey (Petromyzon marinus).Molecular biology and evolution · 2016Article
- The pathogenicity of genetic variants previously associated with left ventricular non-compaction.Molecular genetics & genomic medicine · 2016Article
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11 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundWe report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s. METHODS AND
resultsUsing the whole-exome sequencing approach, we identified the proband homozygous missense mutations in two genes, the myosin heavy chain 7B (MYH7B) and the integrin alpha 7 (ITGA7). Both genes are expressed in heart and muscle tissues, and both mutations were predicted to be deleterious and were not found in the healthy population.The R890C mutation in the MYH7B gene segregated with the LVNC phenotype in the examined family. It was also found in one unrelated patient affected by LVNC, confirming a causative role in cardiomyopathy.The E882K mutation in the ITGA7 gene, a key component of the basal lamina of muscle fibers, was found only in the proband, suggesting a role in CFTD.
conclusionsThis study identifies two novel disease genes. Mutation in MYH7B causes a classical LVNC phenotype, whereas mutation in ITGA7 causes CFTD. Both phenotypes represent alterations of skeletal and cardiac muscle maturation and are usually not severe. The severe phenotype of the proband is most likely due to a synergic effect of these two mutations.This study provides new insights into the genetics underlying Mendelian traits and demonstrates a role for digenic inheritance in complex phenotypes.
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