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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
- Source :
- Nature Genetics. 43:1252-1255
- Publication Year :
- 2011
- Publisher :
- Springer Science and Business Media LLC, 2011.
-
Abstract
- Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. Using whole-exome sequencing followed by Sanger sequencing, we identified three truncating mutations within PRRT2 (NM_145239.2) in eight Han Chinese families with histories of paroxysmal kinesigenic dyskinesia: c.514_517delTCTG (p.Ser172Argfs*3) in one family, c.649dupC (p.Arg217Profs*8) in six families and c.972delA (p.Val325Serfs*12) in one family. These truncating mutations co-segregated exactly with the disease in these families and were not observed in 1,000 control subjects of matched ancestry. PRRT2 is a newly discovered gene consisting of four exons encoding the proline-rich transmembrane protein 2, which encompasses 340 amino acids and contains two predicted transmembrane domains. PRRT2 is highly expressed in the developing nervous system, and a truncating mutation alters the subcellular localization of the PRRT2 protein. The function of PRRT2 and its role in paroxysmal kinesigenic dyskinesia should be further investigated.
- Subjects :
- Male
Heredity
Adolescent
Transcription, Genetic
Genetic Linkage
Nerve Tissue Proteins
Biology
Mice
symbols.namesake
Gene Frequency
INDEL Mutation
Chorea
Genetics
medicine
Animals
Humans
Exome
Frameshift Mutation
Genetic Association Studies
Exome sequencing
Sanger sequencing
Benign familial infantile epilepsy
Brain
Membrane Proteins
Infantile convulsions and choreoathetosis
Sequence Analysis, DNA
Paroxysmal dyskinesia
medicine.disease
Pedigree
Protein Structure, Tertiary
Mice, Inbred C57BL
Transmembrane domain
Gene Components
PNKD
Spinal Cord
Organ Specificity
Case-Control Studies
symbols
Female
PRRT2
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....006a413174be628fea92f7bfb3972c75