品脱1
外显子组测序
帕金
遗传学
外显子组
生物
LRRK2
突变
医学
神经科学
生物信息学
疾病
内科学
帕金森病
基因
作者
Hui Chen,Yuhua Jin,Yan‐Yan Xue,Yulan Chen,Yijun Chen,Qing‐Qing Tao,Zhi‐Ying Wu
标识
DOI:10.1016/j.neulet.2020.135075
摘要
Genetic factors are considered to play a critical role in patients with early-onset Parkinson's disease (EOPD). The genetic spectrum of EOPD patients has been extensively investigated in Caucasian populations but rarely in the Chinese population. In this study, a total of 21 unrelated Chinese EOPD patients were enrolled. Multiplex ligation-dependent probe amplification assay and whole-exome sequencing were performed, followed by Sanger sequencing. Detailed clinical features were presented. Two novel likely pathogenic variants (p.Q648X in ATP13A2 and p.N521fs in PINK1) and 10 previously reported Parkin pathogenic variations (exon 2 deletion, exon 3-4 deletion, exon 4 deletion, exon 6-7 deletion, exon 7 deletion; p.G284R, p.G329 V, p.R366W, p.N428fs, p.M458 L) were identified in 9 out of 21 (42.86%) patients. The frequency (33.33%) of Parkin variations is much higher in our cohort than that in the East Asian population. The patient carrying the ATP13A2 variant showed no response to levodopa treatment. Our findings broaden the genetic spectrum and clinical features of EOPD patients.
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