A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor - Scorecard - MDSpire
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A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor
Clinical Scorecard: Identification of a homozygous missense mutation, p.Ser166Leu, in the PRPF40B gene within a 7.7 Mb homozygous region in a consanguineous family from Turkey with essential tremor
At a Glance
Category
Detail
Condition
Essential Tremor (ET)
Key Mechanisms
Homozygous missense variant in PRPF40B gene
Target Population
Consanguineous Turkish family
Care Setting
Clinical evaluation at Ankara University Medical School and Bilkent University
Key Highlights
Identification of PRPF40B missense variant p.Ser166Leu in affected family members
ET prevalence in Turkey ranges from 1.6% to 4% in different regions
Consanguinity facilitated genetic discovery in the Turkish population
Guideline-Based Recommendations
Diagnosis
Use Washington-Heights-Inwood Genetic Study of ET criteria for diagnosis
Management
Clinical assessment of tremor severity and associated symptoms
Monitoring & Follow-up
Regular evaluation for features of Parkinson's Disease and other neurological symptoms
Risks
Increased risk of neurological disorders in consanguineous populations
Patient & Prescribing Data
Individuals from a consanguineous Turkish family with ET
Genetic analysis suggests potential for targeted therapies based on PRPF40B variant
Clinical Best Practices
Conduct thorough clinical assessments for tremor and associated symptoms
