Novel compound heterozygous AIRE mutations in a Japanese patient with APECED

Journal of Pediatric Endocrinology and Metabolism

Volumn 17, Issue 6, 2004, Pages 917-921

  Sato, Utako ^a   Horikawa, Reiko ^a   Katsumata, Noriyuki ^a   Asakura, Yumi ^b   Kitanaka, Sachiko ^c   Tanaka, Toshiaki ^a  

^a NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Addison's disease; AIRE; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED); Hypoparathyroidism

Indexed keywords

AMINO ACID; CALCIUM LACTATE; DOXERCALCIFEROL; FLUDROCORTISONE ACETATE; HYDROCORTISONE; SODIUM CHLORIDE; THYMINE; VALPROIC ACID;

ADDISON DISEASE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CANDIDA; CASE REPORT; EXON; FEBRILE CONVULSION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOSITY; HUMAN; HYPOPARATHYROIDISM; JAPAN; MUCOCUTANEOUS CANDIDIASIS; NUCLEOTIDE SEQUENCE; RARE DISEASE; REGULATOR GENE; SEQUENCE ANALYSIS;

EID: 3242885656     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.6.917     Document Type: Article

References (26)

1. Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997; 17: 399-403.
2. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Positional cloning of the APECED gene. Nat Genet 1997; 17: 393-398.
3. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 2000; 66: 378-392.
4. Pitkanen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vahamurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, Peterson P. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 2000; 275: 16802-16809.
5. Pitkanen J, Vahamurto P, Krohn K Peterson P. Subcellular localization of the autoimmune regulator protein. J Biol Chem 2001; 276: 19597-19602.
6. Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D. Projection of an immunological self shadow within the thymus by the AIRE protein. Science 2002; 298: 1395-1401.
7. Ramsey C, Winqvist O, Puhakka L, Halonen M, Moro A, Kampe O, Eskelin P, Pelto-Huikko M, Peltonen L. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 2002; 111: 397-409.
8. Kogawa K, Kudoh J, Nagafuchi S, Ohga S, Katsuta H, Ishibashi H, Harada M, Hara T, Shimizu N. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. Clin Immunol 2002; 103: 277-283.
9. Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halasz Z, Blumel P, Tawfik S, Krohn K, Lebl J, Peterson P, MEWPE-APECED Study Group. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001; 18: 225-232.
10. Heino M, Scott HS, Chen Q, Peterson P, Maenpaa U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K. Mutation analyses of North American APS-1 patients. Hum Mutat 1999; 13: 69-74.
11. Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2000; 85: 2922-2926.
12. Meloni A, Perniola R, Faa V, Corvaglia E, Cao A, Rosatelli MC. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 2002; 87: 841-846.
13. Myhre AG, Bjorses P, Dalen A Husebye ES. Three sisters with Addison's disease. J Clin Endocrinol Metab 1998; 83: 4204-4206.
14. Myhre AG, Halonen M, Eskelin P, Ekwall O, Hedstrand H, Rorsman F, Kampe O, Husebye ES. Autoimmune polyendocrine syndrome type 1 (APS1) in Norway. Clin Endocrinol 2001; 54: 211-217.
15. Pearce SHS, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindred with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998; 63: 1675-1684.
16. Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJE, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998; 103: 428-434.
17. Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frebourg T, Lefebvre H. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Eur J Endocrinol 2001; 144: 347-351.
18. Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seru M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Ngamine K, Kudoh J, Shimizu N, Kronhn KJE, Antonarakis SE. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol 1998; 12: 1112-1119.
19. Soderbergh A, Rorsman F, Halonen M, Ekwall O, Bjorses P, Kampe O, Husebye ES. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison's disease. J Clin Endocrinol Metab 2000; 85: 460-463.
20. Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, Delvin E, Kampe O, Deal C. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab 1999; 84: 844-852.
21. Wang CY, Davoodi-Semiromi A, Huang WH, Connor E, Shi JD, She JX. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet 1998; 103: 681-685.
22. Guttmann-Bauman I, Shi JD, Wang CY, She JX. Detection of AIRE mutation in atypical autoimmune polyglandular syndrome type 1 (APS1). J Endocr Genet 2001; 2: 115-121.
23. Nithiyananthan R, Heward JM, Allahabadia A, Barnett AH, Franklyn JA Gough SCL. A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J Clin Endocrinol Metab 2000; 85: 1320-1322.
24. Guimaraes CP, Lemos M, Menezes I, Coelho T, Sa-Miranda C, Azevedo JE. Characterization of two mutations in the ABCD1 gene leading to low levels of normal ALDP. Hum Genet 2001; 109: 616-622.
25. Lee H-H, Chang SF. Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency, J Endocrinol 2001; 171: 397-402.
26. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 2002; 87: 2568-2574.