ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort

Abstract

It was reported that the intron 6, + 1 del G (GT>TT) mutation of the ARHGEF28 gene generates a shortened protein that might be related to amyotrophic lateral sclerosis (ALS). We sequenced this mutation in 25 familial ALS (FALS), 357 sporadic ALS (SALS) patients, and 442 healthy control subjects. We found just two SALS patients exhibited the mutation so that the incidence of this mutation was 0.52% (2/382) of all the ALS patients. The clinical features of the mutation-positive patients were quite different from the case reported in a previous study. These characteristics differed in terms of gender, site of onset, cognitive function, and family history.

Key words::

• ARHGEF28 gene
• RGNEF protein
• ALS cohort

Acknowledgements

The authors thank R. A. Hegele and M. J. Strong for their helpful advice.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

The study was supported by grants from the National Natural Sciences Foundation of China and the Major Projects of the National Science and Technology of China