期刊
EXPERIMENTAL AND THERAPEUTIC MEDICINE
卷 21, 期 5, 页码 -出版社
SPANDIDOS PUBL LTD
DOI: 10.3892/etm.2021.9935
关键词
genotypic-phenotypic spectrum; dystonia; PRRT2; gene variant
资金
- Hunan Provincial Science and Technology Department [2019SK1010]
- National Natural Science Foundation of China [81671299, 81974206, 81671300]
- Natural Science Foundation of Hunan Province Project [2020JJ5914]
- Central South University Graduate Innovation Foundation [1053320183945]
This study investigated the clinical manifestations and pathogenic variants in three large families with PKD and/or BFIE in China. Three causative heterozygous variants in the PRRT2 gene were identified, which co-segregated with the phenotype and genotype in the family members. The results deepen the understanding of PKD/BFIE and extend the genotypic-phenotypic spectrum of these disorders.
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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