TUBA4A gene has recently been identified as a potential candidate amyotrophic lateral sclerosis(ALS)-associated gene using exome-wide rare variant burden analysis. The identification of novel TUBA4A variants in Italian ALS patients further support the role of TUBA4A in ALS. We sequenced the coding region of exon 4 in the TUBA4A gene in a cohort consisting of 80 familial ALS probands, 500 sporadic ALS patients and 500 healthy control individuals. No TUBA4A causative variants were identified in the ALS patients. In conclusion, our current results did not find an association between TUBA4A and ALS in Chinese patients, and further studies will be required.
Keywords: Amyotrophic lateral sclerosis; Chinese population; TUBA4A gene; association study; genetic study.