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Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
He, Jialinzi; Tang, Haiyun; Liu, Chaorong; Tan, Langzi; Xiao, Wenbiao; Xiao, Bo; Long, Hongyu; Long, Lili.
Afiliación
  • He J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Tang H; Department of Radiology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Liu C; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Tan L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Xiao W; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Xiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Long H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
  • Long L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
Exp Ther Med ; 21(5): 504, 2021 May.
Article en En | MEDLINE | ID: mdl-33791013
The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collected. Genomic DNA was isolated from the peripheral blood samples of all available members. The genetic diagnosis was made by whole-exome sequencing on the three probands and the candidate variants were verified by PCR-Sanger sequencing. The pathogenicity of variants was predicted by bioinformatics analyses and classified according to the American College of Medical Genetics criteria. A total of three causative heterozygous variants were identified in the proline-rich transmembrane protein 2 (PRRT2) gene by DNA sequencing: A novel c.324_334del(p.Val109Argfs*21) deletion variant in Family A, as well as the previously known c.510_513del(p.Ser172Argfs*3) deletion variant in Family B and c.649dupC(p.Arg217Profs*8) duplication variant in Family C. The three variants of PRRT2 co-segregated with the phenotype and genotype in the family members. The present results deepen the current understanding of PKD/BFIE and extend the genotypic-phenotypic spectrum of PKD/BFIE.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Exp Ther Med Año: 2021 Tipo del documento: Article Pais de publicación: Grecia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Exp Ther Med Año: 2021 Tipo del documento: Article Pais de publicación: Grecia