Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder defined by the presence of two of three conditions, namely, Addison's disease, hypoparathyroidism, and mucocutaneous candidiasis. APECED is caused by alteration in a single gene, named the autoimmune regulator (AIRE) gene. We report AIRE gene mutations in a Japanese female with APECED. The patient is a 22-year-old Japanese female who was diagnosed with Addison's disease, hypoparathyroidism, and mucocutaneous candidiasis at age 8 years. Sequence analysis of the AIRE gene revealed novel compound heterozygous mutations. One was 1471 delCinsTT in exon 11 (GenBank accession no. AB006682), which leads to a frameshift and premature truncation of a 502 amino acid protein. The other was a G-->A transition at IVS11+1. Her mother was heterozygous for 1471 delCinsTT and was normal homozygous for IVS11+1. We found novel compound heterozygous mutations in the AIRE gene of a Japanese female with APECED.
Sato
Utako
U
Division of Endocrinology and Metabolism, Department of Medicine, National Center for Child Health and Development, Tokyo, Japan.
Horikawa
Reiko
R
Katsumata
Noriyuki
N
Asakura
Yumi
Y
Kitanaka
Sachiko
S
Tanaka
Toshiaki
T
D000224:Addison Disease / Q000235:genetics; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics*; D003596:Cytosine; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics; D016254:Mutagenesis, Insertional; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D013577:Syndrome; D013936:Thymidine; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
D003596:Cytosine; D013936:Thymidine; D014157:Transcription Factors; D000096927:AIRE Protein