Reversible Metaphyseal Dysplasia, a Novel Bone Phenotype, in Two Unrelated Children with Autoimmunepolyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Clinical and Molecular Studies

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 10, 2003, Pages 4576-4585

  Harris, Mark ^a   Kecha, Ouafae ^b   Deal, Cheri ^b   Howlett, C Rolfe ^c   Deiss, Dorothee ^d   Tobias, Vivienne ^a   Simoneau Roy, Judith ^b   Walker, Jan ^a  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AIRE GENE; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BONE BIOPSY; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE; GENE DELETION; HISTOPATHOLOGY; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REMISSION; REVERSIBLE METAPHYSEAL DYSPLASIA;

EID: 0242351857     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030089     Document Type: Article

References (23)

1. Perheentupa J 2002 APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 31:295-320
2. Kumar PG, Laloraya M, She J-X 2002 Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 31:321-338
3. 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 KJ, Gos A, Morris MA, Peterson P 2000 The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 275:16802-16809
4. Rinderle C, Christensen HM, Schweiger S, Lehrach H, Yaspo ML 1999 AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Hum Mol Genet 8:277-290
5. Bjorses P, Halonen M, Palvimo JJ, Halonen M, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66:378-392
6. Halonen M, Pelto-Huikko M, Eskelin P, Peltonen L, Ulmanen I, Kolmer M 2001 Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). J Histochem Cytochem 49:197-208
7. John SW, Weitzner G, Rozen R, Scriver CR 1991 A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19:408
8. Consortium TF-GA 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat Genet 17:399-403
9. Reboul P, Pelletier JP, Tardif G, Cloutier JM, Martel-Pelletier J 1996 The new collagenase, collagenase-3, is expressed and synthesized by human chondrocytes but not by synoviocytes. A role in osteoarthritis. J Clin Invest 97:2011-2019
10. Kogawa K, Nagafuchi S, Katsuta H, et al. 2002 Expression of AIRE gene in peripheral monocyte/dendritic cell lineage. Immunol Lett 80:195-198
11. Heino M, Peterson P, Kudoh J, Shimizu N, Antonarakis SE, Scott HS, Krohn K 2001 APECED mutations in the autoimmune regulator (AIRE) gene. Hum Mutat 18:205-211
12. Olsen BR 1995 Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias. Bone 17(Suppl):45S-49S
13. Wallis GA, Rash, B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP 1996 Mutations within the gene encoding the a1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet 33:450-457
14. Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T 1999 Metaphyseal anadysplasia: evidence of genetic heterogeneity. Am J Med Gen 82:43-48
15. Beluffi G, Fiori P, Schifino A, Notarangelo LD, Giardini D, Bozzola M, Montanari C, Martini A 1982 Metaphyseal dysplasia, type Schmid. In: Papadatos CJ, Bartsocas CS, eds. Progress in clinical and biological research. Proceedings of the Third International Clinical Genetics Seminar. New York: Liss; vol 104:103-110
16. Resnick D, Niwayama G 1988 Diagnosis of bone and joint disorders, 2nd Ed. Philadelphia: Saunders; 3098-3100
17. Price JS, Oyajobi BO, Russell RG 1994 The cell biology of bone growth. Eur J Clin Nutr 48(Suppl 1):S131-S149
18. Taybi H, Lachman RS 1996 Radiology of syndromes, metabolic disorders, and skeletal dysplasias, 4th Ed. St. Louis, MO: Mosby; 625-628
19. Hedstrand H, Ekwall O, Olsson, MJ, Landgren E, Kemp EH, Weetman AP, Perheentupa J, Huserbye E, Gustafsson J, Betterle C, Kampe O, Rorsman F 2001 The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrinopathy type I. J Biol Chem 276:35390-35395
20. Ryan AM, Eppler DB, Hagler KE, Bruner RH, Thomford PJ, Hall RL, Shopp GM, O'Neill CA 1999 Preclinical safety evaluation of rhuMabVEGF, an antiangiogenic humanized monoclonal antibody. Toxicol Pathol 27:78-86
21. Vu TH, Shipley M, Bergers G, Berger JE, Helms JA, Hanahan D, Shapiro SD, Senior RM, Werb Z 1998 MMP-9/gelatinase B is a key regulator of growth plate angiogenesis and apoptosis of hypertrophic chondrocytes. Cell 93:411-422
22. Long F, Schipani E, Asahara H, Kronenberg H, Montminy M 2001 The CREB family of activators is required for endochondral bone development. Development 128:541-550
23. den Dunnen JT, Antonarakis SE 2000 Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat [Erratum (2002) 20:403] 15:7-12