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Abstract
BackgroundMutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC).Case presentationA previously not recognized intronic PRRT2 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 of PRRT2. 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.ConclusionOur findings expand the mutational spectrum of this disease.
Highlights
Mutations in proline-rich transmembrane protein 2 (PRRT2) cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/Infantile convulsions (IC)).Case presentation: A previously not recognized intronic PRRT2 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 Paroxysmal kinesigenic dyskinesia (PKD)
Benign infantile afebrile convulsions and kinesigenic dystonia are the hallmarks of paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC, dystonia 10; OMIM #128200, #605751 and #602066)
PKD/IC is inherited as an autosomal dominant trait with high penetrance
Summary
Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC). Case presentation: A previously not recognized intronic PRRT2 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 of PRRT2. 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. Onset of convulsions (IC) is commonly during the first year of life. Kinesigenic involuntary movements (PKD) develop somewhat later in early childhood. While convulsions usually resolve by 2 years of age, abnormal movements occur throughout life. PKD/IC is inherited as an autosomal dominant trait with high penetrance. The disease locus was assigned to the short arm of chromosome 16 and a positional cloning approach has identified PRRT2 as the underlying disease gene [1,2,3] PRRT2 encodes “proline-rich transmembrane protein 2” and appears to be required for normal synapse function
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