Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Keyphrases

• Compound Heterozygous mutation 100%
• Developmental Delay 100%
• Sudden Sensorineural Hearing Loss (SSNHL) 100%
• Poor Growth 100%
• Single nucleotide Variant 100%
• MARS2 100%
• Protein Level 42%
• Patient Fibroblasts 42%
• Lymphoblast 28%
• NDUFB8 28%
• COX-II 28%
• Enzyme Activity 14%
• Overexpression 14%
• Whole Exome Sequencing 14%
• Affected Siblings 14%
• Immunoblotting 14%
• Hypotonia 14%
• Respiratory Complexes 14%
• Deficiency Diseases 14%
• Reduced Protein 14%
• Mitochondrial Translation 14%
• Aminoacyl-tRNA Synthetase 14%
• Pectus Carinatum 14%
• Complex Enzyme 14%

Biochemistry, Genetics and Molecular Biology

• Single-Nucleotide Polymorphism 100%
• Fibroblast 100%
• Lymphoblast 66%
• Enzyme Activity 33%
• Wild Type 33%
• Exome Sequencing 33%
• Aminoacyl tRNA Synthetase 33%
• Immunoblotting 33%

Immunology and Microbiology

• Single Nucleotide Polymorphism 100%
• Fibroblast 100%
• Lymphoblast 66%
• Wild Type 33%
• Western Blot 33%
• Enzyme Activity 33%
• Whole Exome Sequencing 33%