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Fig. 2 | Genome Medicine

Fig. 2

From: Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

Fig. 2

Summary of rare variants in Chinese WES sample comprising 597 sporadic (sALS) and 13 familial (fALS) cases. The screening of WES data of Chinese ALS cases identified ~ 5% with previously reported likely causal variants. Variants previously reported for ALS but now found to have population frequency (0.00005 ≤ freq < 0.01) are classified as ‘unlikely causal’. For variants identified in cases only, a number of putatively damaging, rare (MAF < 0.00005 dominant or < 0.01 recessive) variants in a predefined set of known ALS-priority genes (n = 32 cases) and ALS-relevant genes (n = 89 cases) were identified, but these have uncertain significance. Considering only fALS probands (n = 13), WES identified previously reported likely causal variants in five cases (1 DCTN1, 2 FUS, 1 SOD1, 1 TARDBP) with uncertain significance variants (damaging rare in ALS-relevant genes) in four others. Four percent of cases (24/610) and 3% of controls (13/460) were identified to be carrying one or more rare variants in ALS genes (from any category; causal, risk, candidate) and/or similar disease genes (Additional file 1: Table S10), but no individual harboured more than one likely causal variant. The number of cases are defined in the legend and expressed a percentage of total ALS case exomes screened (n = 610)

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