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Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
- Source :
- Molecular Neurobiology; Mar2016, Vol. 53 Issue 2, p835-841, 7p
- Publication Year :
- 2016
-
Abstract
- Febrile seizures (FS), the most frequent type of seizures in children, occur in neurologically normal infants and children between the ages of 3 months and 5 years with genetic predisposition. The aim of this study was to identify the responsible gene in a four-generation Chinese Han pedigree with autosomal dominant FS. Seven family members (three affected and four unaffected) were enrolled in this study. Exome sequencing was conducted and a duplication mutation c.649dupC (p.R217Pfs*8) in the proline-rich transmembrane protein 2 gene ( PRRT2) was identified. The mutation co-segregated with the disorder and was absent in normal controls. To our knowledge, this is the first report of a pedigree with complete penetrance of FS, which is caused by mutation in the PRRT2 gene. FS is a novel phenotype of the c.649dupC (p.R217Pfs*8) mutation. Our discovery broadens the spectrum of genetic causes of FS and the spectrum of phenotypes linked to mutation in the PRRT2 gene. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08937648
- Volume :
- 53
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Molecular Neurobiology
- Publication Type :
- Academic Journal
- Accession number :
- 112968442
- Full Text :
- https://doi.org/10.1007/s12035-014-9047-4