Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Weber, Axel; Kreth, Jonas; Müller, Ulrich
• Is Part Of: BMC medical genetics. Volume 17:Issue 1(2016)
• Page Start: 1
• Page End: 3
• Publication Date: 2016-12
• Subjects: Paroxysmal kinesigenic dyskinesia (PKD) -- Infantile convulsions (IC) -- PKD/IC -- Dystonia 10 -- PRRT2 -- Novel splice acceptor site; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1186/s12881-016-0281-7
• Languages: English
• ISSNs: 1471-2350

Abstract

Abstract Background Mutations inPRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC). Case presentation A previously not recognized intronicPRRT2 mutation (c.880-35G > A; p.S294Lfs *29) was found in an 18 month old girl with IC and in her mother with classical presentation of PKD. The mutation results in a novel splice acceptor site in intron 2 ofPRRT2 . Due to frameshift and a subsequent premature stop-codon the resulting transcript appears to render the PRRT2 protein non/dysfunctional and is the likely cause of disease in this family. Conclusion Our findings expand the mutational spectrum of this disease.