Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

Keyphrases

• Affected Family Members 33%
• Autosomal Dominant 33%
• Cataract 33%
• Causes of Visual Impairment 33%
• Classification Diagnosis 33%
• Clinical Classification 33%
• Clinical Diagnosis 33%
• Clinical Genetics 33%
• Clinically Significant 33%
• Concomitant mutation 33%
• CRYGD 100%
• Crystallin 33%
• Damaging Effects 33%
• Exome Sequencing 100%
• Exon 2 66%
• Gap Junction Protein 33%
• Gene Coding 33%
• Genetic Counseling 33%
• Genotype-phenotype Correlation 33%
• GJA8 100%
• Heterozygous mutation 33%
• In Silico 33%
• Inherited Cataract 100%
• Lens Opacity 33%
• Molecular Diagnostics 33%
• Mutation Profiling 33%
• Novel mutation 100%
• Novel Variants 66%
• Nuclear Family 33%
• Protein Function 33%
• Recurrent mutation 100%
• Trio Exome Sequencing 33%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 33%
• Candidate Gene 66%
• Clinical Classification 33%
• Computer Model 33%
• Connexin 33%
• Crystallin 33%
• Exome Sequencing 100%
• Exon 66%
• Genetic Counseling 33%
• Genotype Phenotype Correlation 33%
• Protein Function 33%