A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

Gene

Volumn 511, Issue 1, 2012, Pages 113-117

  Fierabracci, Alessandra ^a   Bizzarri, Carla ^a   Palma, Alessia ^a   Milillo, Annamaria ^a   Bellacchio, Emanuele ^a   Cappa, Marco ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

AIRE screening; Epidemiology; Gene defect; Type 1 autoimmune polyglandular syndrome

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN;

AIRE GENE; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; CHILD; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; LITHUANIA; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MODELS, MOLECULAR; PEDIGREE; POINT MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84867638087     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.029     Document Type: Article

References (17)

1. Ahonen P., Myllarniemi S., Sibila I., Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New Engl. J. Med. 1990, 322:1829-1836.
2. Bjorses P., et al. 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, 66:178-192.
3. Cervato S., et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clin. Endocrinol. 2009, 70:412-418.
4. Cetani F., et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J. Clin. Endocrinol. Metab. 2001, 86:4747-4752.
5. Faiyaz-Ul-Haque M., et al. Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. Clin. Genet. 2009, 76:431-440.
6. Fierabracci A. Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity. Autoimmun. Rev. 2011, 10:137-143.
7. Kisand K., Peterson P. Autoimmune polyendocrynopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann. N. Y. Acad. Sci. 2011, 1246:77-91.
8. Meloni A., Perniola R., Faà V., Corvaglia E., Cao A., Rosatelli M.C. 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.
9. Meloni A., Incani F., Corda D., Cao A., Rosatelli M.C. Role of PHD fingers and COOH-terminal 30 amino acids in Aire transactivation activity. Mol. Immunol. 2008, 45:805-809.
10. Oftedal B.E., et al. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type 1. Clin. Immunol. 2008, 129:163-169.
11. Orlova E.M., et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm. Res. Paediatr. 2010, 73:449-457.
12. Pitkänen J., et al. The autoimmune regulator protein has transcriptional transactivation properties and interacts with the common coactivator Creb-binding protein. J. Biol. Med. 2000, 275:16802-16809.
13. Podkrajšek K.T., et al. Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur. J. Endocrinol. 2008, 159:633-639.
14. Rosatelli M.C., et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum. Genet. 1998, 103:428-434.
15. Sali A., Blundell T.L. Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 1993, 234:779-815.
16. Scott H.S., et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol. Endocrinol. 1998, 12:1112-1119.
17. Wolff A.S., et al. Autoimmune polyendocrine syndrome type 1 in Norway; phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J. Clin. Endocrinol. Metab. 2007, 92:595-603.