PRRT2

PRRT2

A gene on chromosome 16p11.2 that encodes an integral proline-rich transmembrane glycoprotein.

Molecular pathology
PRRT2 truncation-type mutations are linked to episodic kinesigenic dyskinesia type 1.
References in periodicals archive ?
In 2011, genome-wide linkage analyses confirmed proline-rich transmembrane protein 2 ( PRRT2 ) as the causative gene of PKD due to its overlapping location to EKD1/EKD2 region.
sup][2],[3] Since 2011, when the first candidate gene PRRT2 was identified, PKD has attracted more and more attention of clinicians and geneticists.
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
PRRT2 is a key component of the ca(2+)-dependent neurotransmitter release machinery.
sup][7] tried to explore the genetic factors in PRRT2 -negative PKD patients with candidate gene strategy.
Mutation Analysis of MR-1 , SLC2A1 , and CLCN1 in 28 PRRT2 -negative Paroxysmal Kinesigenic Dyskinesia Patients.
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene.
sup][4] PRRT2 encoding proline-rich transmembrane protein 2 has been identified as a causative gene for PKD by several independent groups.
Of note, PRRT2 mutations were not only implicated in PKD but also identified in other paroxysmal disorders, such as benign familial infantile seizures,[sup][13],[14] paroxysmal nonkinesigenic dyskinesia (PNKD),[sup][15],[16] and paroxysmal exertion-induced dyskinesia (PED).
Amino acid and nucleotide changes were identified and numbered corresponding to their position within the PRRT2 mRNA.
In the present study, we screened MR-1 , SLC2A1 , and CLCN1 genes in 28 patients who were diagnosed with sporadic PKD but not carrying PRRT2 mutations.