Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.
复制标题
DOI：
10.3892/etm.2021.9935
复制
发表时间：
2021-05
影响因子：
2.7
通讯作者：
Long L
中科院分区：
文献类型：
--
作者：
He J;Tang H;Liu C;Tan L;Xiao W;Xiao B;Long H;Long L
本研究对我国3个常染色体显性遗传性阵发性运动诱发性运动障碍（PKD）和/或良性家族性婴儿癫痫（BFIE）大家系的临床表现和致病变异进行了调查。收集详细的临床资料和家族史。从所有可用成员的外周血样品中分离基因组DNA。对3例先证者进行全外显子组测序进行遗传学诊断，并对候选变异体进行PCR-Sanger测序验证。通过生物信息学分析预测变异体的致病性，并根据美国医学遗传学学会的标准进行分类。通过DNA测序，在富含脯氨酸的跨膜蛋白2（PRRT 2）基因中共鉴定出三种致病杂合变体：一种新的c.324_334del（p.Val109Argfs*21）缺失变体，以及先前已知的家族B中的c.510_513 del（p.Ser172Argfs*3）缺失变体和家族C中的c.649dupC（p.Arg217Profs*8）重复变体。PRRT 2的三种变体与家族成员的表型和基因型共分离。本研究结果加深了目前对PKD/BFIE的理解，并扩展了PKD/BFIE的基因型-表型谱。
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.
登录
查看更多内容
影响因子：
3
作者：
Jiang, Yong-li;Yuan, Fang;Jiang, Wen
通讯作者：
Jiang, Wen
影响因子：
8.6
作者：
Albanese, Alberto;Bhatia, Kailash;Bressman, Susan B.;DeLong, Mahlon R.;Fahn, Stanley;Fung, Victor S. C.;Hallett, Mark;Jankovic, Joseph;Jinnah, Hyder A.;Klein, Christine;Lang, Anthony E.;Mink, Jonathan W.;Teller, Jan K.
通讯作者：
Teller, Jan K.
影响因子：
30.8
作者：
Chen, Wan-Jin;Lin, Yu;Wu, Zhi-Ying
通讯作者：
Wu, Zhi-Ying
影响因子：
5.6
作者：
Okumura, A;Hayakawa, F;Watanabe, K
通讯作者：
Watanabe, K
影响因子：
1.8
作者：
Lu JG;Bishop J;Cheyette S;Zhulin IB;Guo S;Sobreira N;Brenner SE
通讯作者：
Brenner SE