Genetic heterogeneity and consanguinity lead to a "double hit": Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Keyphrases

• Homozygous mutation 100%
• Consanguinity 100%
• Genetic Heterogeneity 100%
• Retinitis pigmentosa 100%
• MYO7A 100%
• PDE6B 100%
• Double Hit 100%
• Usher Syndrome 20%
• Non-syndromic Retinitis pigmentosa 20%
• Israeli 10%
• Whole Genome 10%
• Disease Severity 10%
• Vestibular Disorders 10%
• Early Diagnosis 10%
• Phosphodiesterase 10%
• Young Age 10%
• Most Common Form 10%
• Hearing Impairment 10%
• Visual Field 10%
• Whole Exome Sequencing 10%
• Novel mutation 10%
• Consanguineous 10%
• Homozygosity Mapping 10%
• Affected children 10%
• Causative Gene 10%
• Human Patients 10%
• Nonsyndromic 10%
• Muslim Arabs 10%
• Pathogenic mutations 10%
• Enhanced Awareness 10%
• Older Siblings 10%
• Cyclic GMP 10%
• Retinal Degeneration 10%
• Good Vision 10%
• Young Sibling 10%
• Syndromic 10%
• Heterogeneous Disorder 10%
• Myosin VIIA 10%
• Arab Family 10%
• Hereditary Disease 10%
• Visual Structure 10%
• Visual Function 10%
• Visual Field Defect 10%
• Electroretinogram 10%
• Retinal Phenotype 10%
• Night Blindness 10%
• Pigmentary Retinopathy 10%
• Multiple Hereditary 10%

Biochemistry, Genetics and Molecular Biology

• Genetic Heterogeneity 100%
• Retinitis pigmentosa 100%
• Consanguinity 100%
• MYO7A 100%
• PDE6B 100%
• Visual Field 18%
• Phosphodiesterase 9%
• Exome Sequencing 9%
• Homozygosity 9%
• Awareness 9%
• Mutated Genes 9%
• Cyclic Guanosine Monophosphate 9%
• Myosin 9%

Medicine and Dentistry

• Consanguinity 100%
• Retinitis pigmentosa 100%
• Genetic Heterogeneity 100%
• MYO7A 100%
• Visual Field 18%
• Usher Syndrome 18%
• Hearing Impairment 9%
• Awareness 9%
• Exome Sequencing 9%
• Homozygosity 9%
• Genetic Disorder 9%
• Disease Severity 9%
• Retinopathy 9%
• Early Diagnosis 9%
• Phosphodiesterase 9%
• Vestibular Disorder 9%
• Retina Degeneration 9%
• Cyclic GMP 9%
• Nyctalopia 9%
• Diseases 9%