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 - Takeaways - MDSpire

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

  • By

  • Onur Emre Onat

  • Shilpa Sonti

  • Daphne Robakis

  • Ayse B. Tekinay

  • Cenk Akbostanci

  • F. Nazli Durmaz Celik

  • Tayfun Ozcelik

  • Lorraine N. Clark

  • May 26, 2026

  • 0 min

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  • 1

    A homozygous missense mutation, p.Ser166Leu, in the PRPF40B gene was identified in a Turkish family with essential tremor.

  • 2

    The mutation was located within a 7.7 Mb region of homozygosity and segregated with essential tremor among affected family members.

  • 3

    Clinical assessments revealed that four family members were diagnosed with essential tremor, with two also diagnosed with Parkinson's Disease.

  • 4

    Functional studies indicated that the p.Ser166Leu variant alters the localization of PRPF40B to the nuclear membrane instead of nuclear speckles.

  • 5

    The study highlights the role of consanguinity in identifying genetic variants associated with neurological disorders in Turkey.

Original Source(s)

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

  • by Onur Emre Onat, Shilpa Sonti, Daphne Robakis, Ayse B. Tekinay, Cenk Akbostanci, F. Nazli Durmaz Celik, Tayfun Ozcelik, Lorraine N. Clark

  • May 26, 2026

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