PRPF40B Gene Variant and Homozygosity Data from a Turkish Family with Essential Tremor

Genetic and clinical data from a four-generation consanguineous Turkish family with essential tremor. The dataset includes findings from whole genome sequencing and autozygosity mapping, identifying a homozygous missense variant in the PRPF40B gene within a 7.7 Mb region of homozygosity. The data was published by Onur Emre Onat on figshare under a CC-BY-4.0 license and last updated in May 2026.

Use Cases

• Validate the association of the PRPF40B p.Ser166Leu variant with essential tremor based on the described segregation analysis.
• Study patterns of homozygosity in consanguineous families based on the 7.7 Mb region of homozygosity data.
• Investigate potential genetic links between essential tremor and Parkinson's disease based on the co-occurrence noted in the family.
• Assess the predicted pathogenicity of missense variants in conserved WW protein domains based on the described in silico studies.

Strengths

• Data is derived from a specific four-generation family cohort of 6 clinically assessed individuals, providing a focused genetic study.
• Analysis includes a 7.7 Mb region of homozygosity and a specific missense variant (p.Ser166Leu) with functional cell study results.
• Clinical evaluation involved multiple institutions, including Ankara University, Bilkent University, and Yale University.

Limitations

• Row count and column-level documentation are unknown, which may limit suitability assessment.
• The dataset's scale is limited to a single family, with a file size of 201.4 KB indicating a tiny scope.
• Description metadata is limited; actual data structure and quality require manual inspection after download.

Provenance

Source

figshare, author Onur Emre Onat

Collection Method

Whole genome sequencing and autozygosity mapping performed on affected and unaffected family members; clinical assessments and transient transfection of HEK293T cells.

Freshness

Last updated 2026-05-26 08:08:49; freshness should be verified.

Geography

Family of Turkish origin, with evaluations conducted in Ankara, Turkey and at Yale University.