Scientific article

Mutation analyses of North American APS-1 patients

Published inHuman mutation, vol. 13, no. 1, p. 69-74
Publication date1999

Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. The gene responsible for APS-1, known as AIRE (for autoimmune regulator), was recently identified and contains motifs suggestive of a transcription regulator. To date, nine APS-1-associated mutations have been identified in the AIRE gene, including two common mutations R257X and 1094-1106del. In addition to these two mutations, we report seven novel mutations in 16 APS-1 patients from North America. We found that 1094-1106del and R257X were the most common mutations in this population of mixed geoethnic origin, accounting for 17/32 and 4/32 alleles, respectively. Haplotype analyses suggest that both are recurrent mutations, occurring on several different haplotypes with closely linked markers. All the novel mutations appear to be rare, occurring in only single APS-1 families. After examining all coding sequences and exon/intron boundaries of the AIRE gene, the other APS-1 allele remained unidentified in three patients. Genotype-phenotype correlations for APS-1 remain difficult, suggesting that other genetic or environmental factors, or both, influence the clinical presentation and disease progression in individual APS-1 patients.

  • DNA Mutational Analysis
  • Female
  • Gene Deletion
  • Genotype
  • Haploidy
  • Humans
  • Male
  • North America/ethnology
  • Phenotype
  • Polyendocrinopathies, Autoimmune/ethnology/ genetics
  • Sequence Deletion
  • Transcription Factors/ genetics
Citation (ISO format)
HEINO, M. et al. Mutation analyses of North American APS-1 patients. In: Human mutation, 1999, vol. 13, n° 1, p. 69–74. doi: 10.1002/(sici)1098-1004(1999)13:1<69::aid-humu8>3.0.co;2-6
Main files (1)
ISSN of the journal1059-7794

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