title: HS1-BP3 gene variant is common in familial essential tremor.
abstract: Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.
authors.affiliation: Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute, New Paltz, New York, USA. jhiggins@fpinstitute.org
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Higgins
authors.forename: Roni Q
authors.initials: RQ
authors.lastname: Lombardi
authors.forename: Joanna
authors.initials: J
authors.lastname: Pucilowska
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
authors.forename: Lawrence I
authors.initials: LI
authors.lastname: Golbe
authors.forename: Leo
authors.initials: L
authors.lastname: Verhagen
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D020329:Essential Tremor / Q000235:genetics* / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011187:Posture / Q000502:physiology
chemical_list: D017931:DNA Primers; C503777:HS1BP3 protein, human; D009419:Nerve Tissue Proteins