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

Keyphrases

• Saudi Family 100%
• Genome Analysis 100%
• Consanguineous 100%
• Novel mutation 100%
• Perrault Syndrome 100%
• Syndrome Type 100%
• Clinical Spectrum 100%
• Early childhood 33%
• Puberty 33%
• Female Patients 33%
• Premature Ovarian Failure 33%
• Clinical Diagnosis 16%
• Male Patients 16%
• Intellectual Disability 16%
• Hearing Impairment 16%
• Autosomal Recessive 16%
• Muscle Weakness 16%
• Heterogeneous Disorder 16%
• LARS2 16%
• Molecular Diagnostics 16%
• HSD17B4 16%
• C10orf2 16%
• Homozygosity Mapping 16%
• Anovulatory Infertility 16%
• Infertility 16%
• HARS2 16%
• Brain Atrophy 16%
• Exon 6 16%
• Mode of Inheritance 16%
• 19p13.3 16%
• Limb Spasticity 16%
• Profound Hearing Loss 16%
• Early Onset 16%
• Lower Limb Spasticity 16%
• Compound Heterozygous mutation 16%

Medicine and Dentistry

• Spasticity 100%
• Primary Ovarian Insufficiency 100%
• Hearing Impairment 100%
• Missense Mutation 100%
• Exome 100%
• Limb 50%
• Lower Limb 50%
• Exon 50%
• Muscle Weakness 50%
• Cerebral Atrophy 50%
• Homozygosity 50%
• Autosomal Recessive Inheritance 50%
• Molecular Diagnosis 50%
• Exome Sequencing 50%
• Diseases 50%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Homozygosity 100%
• Autosomal Recessive Inheritance 100%
• Intellectual Disability 100%
• Missense Mutation 100%
• Exome 100%
• Exome Sequencing 100%