title: Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.
abstract: BACKGROUND
  Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disorder in European populations. ALS can be sporadic ALS (SALS) or familial ALS (FALS). Among 20 known ALS genes, mutations in C9orf72 and superoxide dismutase 1 (SOD1) are the most common genetic causes of the disease. Whereas C9orf72 mutations are more common in Western populations, the contribution of SOD1 to ALS in Iran is more than C9orf72. At present, a clear genotype/phenotype correlation for ALS has not been identified. We aimed to perform mutation screening of SOD1 in a newly identified Iranian FALS patient and to assess whether a genotype/phenotype correlation for the identified mutation exists.
  
  
  METHODS
  The five exons of SOD1 and flanking intronic sequences of a FALS proband were screened for mutations by direct sequencing. The clinical features of the proband were assessed by a neuromuscular specialist (SN). The phenotypic presentations were compared to previously reported patients with the same mutation.
  
  
  RESULTS
  Heterozygous c.260A > G mutation in SOD1 that causes Asn86Ser was identified in the proband. Age at onset was 34 years and site of the first presentation was in the lower extremities. Comparisons of clinical features of different ALS patients with the same mutation evidenced variable presentations.
  
  
  CONCLUSIONS
  The c.260A > G mutation in SOD1 that causes Asn86Ser appears to cause ALS with variable clinical presentations.
authors.affiliation: Department of Biology, School of Science, University of Tehran, Tehran, Iran.
authors.forename: Marzieh
authors.initials: M
authors.lastname: Khani
authors.affiliation: Department of Biology, School of Science, University of Tehran, Tehran, Iran.
authors.forename: Afagh
authors.initials: A
authors.lastname: Alavi
authors.affiliation: Department of Neurology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahriar
authors.initials: S
authors.lastname: Nafissi
authors.affiliation: Department of Biology AND Department of Biotechnology, School of Science, University of Tehran, Tehran, Iran.
authors.forename: Elahe
authors.initials: E
authors.lastname: Elahi
keywords: Amyotrophic Lateral Sclerosis; Genotype-Phenotype Correlation; Mutation; Superoxide Dismutase 1; p.Asn86Ser