Identification of an A4V SOD1 mutation in a Chinese patient with amyotrophic lateral sclerosis without the A4V founder effect common in North America

Abstract

We identified a missense alanine to valine mutation at codon 4 (A4V) in the Cu/Zn superoxide dismutase (SOD1) gene in a 51-year-old male of Chinese origin with familial amyotrophic lateral sclerosis (ALS). The patient displayed a typical A4V-related phenotype that included rapid progression and predominant lower motor neuron involvement. This patient is the first such carrier reported outside Caucasian ALS patients, despite the fact that A4V mutations account for up to 50% of all SOD1 mutations in North America. Further SNP analyses showed that the A4V patient of Chinese origin did not share the common founder effect observed in North America.

Keywords:

• ALS
• SOD1
• A4V mutation
• Chinese

Acknowledgements

This work was supported by the National Natural Science Foundation of China under Grant [81030019]; Peking University-Ulm University Union Foundation under Grant [PKU2017ZC001-2]; the Natural Science Foundation of Beijing Municipality under Grant [7102161], and the National Clinical Key Programme of China.

Declaration of interest

The authors have no conflicts of interest to declare.

Supplementary material available online

Additional information

Funding

This work was supported by the National Natural Science Foundation of China under Grant [81030019]; Peking University-Ulm University Union Foundation under Grant [PKU2017ZC001-2]; the Natural Science Foundation of Beijing Municipality under Grant [7102161], and the National Clinical Key Programme of China.