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

IntroductionWe leveraged consanguinity and population endogamy in a large four generation Turkish family with ET. Examination of clinical features and genetic analysis identified a homozygous PRPF40B missense variant, in a large region of homozygosity, segregating with ET in the family.MethodsThe ET family is of Turkish origin. The proband and relatives were evaluated at Ankara University Medical School and Bilkent University (Ankara, Turkey). A second evaluation of the clinical and videotape da