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Mutation analyses of North American APS-1 patients

✍ Scribed by Maarit Heino; Hamish S. Scott; Qiaoyi Chen; Pärt Peterson; Ulla Mäenpää; Marie-Pierre Papasavvas; Laureane Mittaz; Christine Barras; Colette Rossier; George P. Chrousos; Constantine A. Stratakis; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; Noel Maclaren; Stylianos E. Antonarakis; Kai Krohn

Book ID
101260348
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
383 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

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. Hum Mutat 13:6974, 1999.

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