PRPF40B Gene Variant in a Turkish Family with Essential Tremor

A research article describing genetic analysis of a consanguineous Turkish family with essential tremor. The study identified a homozygous missense variant in the PRPF40B gene within a 7.7 Mb region of homozygosity. The work was authored by Onur Emre Onat and published on figshare in 2026.

Use Cases

• Study the genetic architecture of essential tremor based on the described consanguineous family cohort.
• Investigate the role of the PRPF40B gene in neurological disorders based on the reported missense variant and functional studies.
• Analyze patterns of homozygosity mapping in complex traits based on the 7.7 Mb region of homozygosity described.
• Benchmark computational pathogenicity predictions based on the in silico analysis of the p.Ser166Leu variant.

Strengths

• Includes functional validation data from cell transfection experiments in HEK293T cells.
• Clinical evaluation involved multiple institutions, including Ankara University and Yale University.
• Genetic analysis is based on whole genome sequencing data from a four-generation family.

Limitations

• The dataset is a single 185.5 KB PDF document; the underlying raw sequencing or clinical data is not provided.
• Row count and column-level documentation for any underlying data are unknown.
• The data is specific to a single family, which may limit generalizability.

Provenance

Source

figshare, authored by Onur Emre Onat.

Collection Method

Whole genome sequencing and autozygosity mapping performed on affected and unaffected members of a consanguineous Turkish family with essential tremor.

Freshness

Last updated 2026-05-26 08:08:48.

Geography

Family is of Turkish origin; clinical evaluations were performed in Ankara, Turkey.