Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Medicine & Life Sciences

• Gonadal dysgenesis XX type deafness 100%
• Exome 60%
• Missense Mutation 52%
• Primary Ovarian Insufficiency 27%
• Puberty 21%
• Genes 20%
• Hearing Loss 19%
• Infertility 18%
• Whole Exome Sequencing 11%
• Mutation 11%
• Muscle Weakness 10%
• Intellectual Disability 9%
• Atrophy 8%
• Exons 8%
• Lower Extremity 8%
• Chromosomes 7%
• Extremities 7%
• Clinical Studies 6%
• Genome 6%
• Phenotype 6%
• Brain 4%