RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

Journal of Bone and Mineral Research

Volumn 27, Issue 2, 2012, Pages 342-351

  Pangrazio, Alessandra ^a,b   Cassani, Barbara ^a,b   Guerrini, Matteo M ^a,b   Crockett, Julie C ^c   Marrella, Veronica ^a,b   Zammataro, Luca ^b   Strina, Dario ^a,b   Schulz, Ansgar ^d   Schlack, Claire ^e   Kornak, Uwe ^e,f   Mellis, David J ^c   Duthie, Angela ^c   Helfrich, Miep H ^c   Durandy, Anne ^g   Moshous, Despina ^g,h   Vellodi, Ashok ⁱ   Chiesa, Robert ⁱ   Veys, Paul ⁱ   Lo Iacono, Nadia ^a,b   Vezzoni, Paolo ^a,b   Fischer, Alain ^g,h   Villa, Anna ^a,b   Sobacchi, Cristina ^a,b   more..

^a Milan Unit   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c UNIVERSITY OF ABERDEEN   (United Kingdom)

^d UNIVERSITY HOSPITAL ULM   (Germany)

^e Institute of Medical Genetics and Human Genetics   (Germany)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

HYPERCALCEMIA; IMMUNE SYSTEM; OSTEOPETROSIS; RANK; TRANSPLANTATION

Indexed keywords

RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B;

AGE DISTRIBUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OSTEOPETROSIS; B LYMPHOCYTE; CASE STUDY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; GENE INSERTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; HYPERCALCEMIA; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS;

EID: 84856160815     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.559     Document Type: Article

References (24)

1. Tolar J, Teitelbaum SL, Orchard PJ,. Osteopetrosis. N Engl J Med. 2004; 351: 2839-49.
2. Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C,. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcif Tissue Int. 2009; 84: 1-12.
3. Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH,. Osteoclast-poor human osteopetrosis because of mutations in the gene encoding RANKL. Nat Genet. 2007; 39: 960-2. (Pubitemid 47185178)
4. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A,. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia because of TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008; 83: 64-76. (Pubitemid 351916706)
5. Crockett JC, Mellis DJ, Scott DI, Helfrich MH,. New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis. Osteoporos Int. 2011; 22: 1-20.
6. Dougall WC, Glaccum M, Charrier K, Rohrbach K, Brasel K, De Smedt T, Daro E, Smith J, Tometsko ME, Maliszewski CR, Armstrong A, Shen V, Bain S, Cosman D, Anderson D, Morrissey PJ, Peschon JJ, Schuh J,. RANK is essential for osteoclast and lymph node development. Genes Dev. 1999; 13: 2412-24. (Pubitemid 29453612)
7. Kong YY, Yoshida H, Sarosi I, Tan HL, Timms E, Capparelli C, Morony S, Oliveira-dos-Santos AJ, Van G, Itie A, Khoo W, Wakeham A, Dunstan CR, Lacey DL, Mak TW, Boyle WJ, Penninger JM,. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature. 1999; 397: 315-23.
8. Kim D, Mebius RE, MacMicking JD, Jung S, Cupedo T, Castellanos Y, Rho J, Wong BR, Josien R, Kim N, Rennert PD, Choi Y,. Regulation of peripheral lymph node genesis by the tumor necrosis factor family member TRANCE. J Exp Med. 2000; 192: 1467-78.
9. Li J, Sarosi I, Yan XQ, Morony S, Capparelli C, Tan HL, McCabe S, Elliott R, Scully S, Van G, Kaufman S, Juan SC, Sun Y, Tarpley J, Martin L, Christensen K, McCabe J, Kostenuik P, Hsu H, Fletcher F, Dunstan CR, Lacey DL, Boyle WJ,. RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism. Proc Natl Acad Sci USA. 2000; 97: 1566-71. (Pubitemid 30118482)
10. Kapur RP, Yao Z, Iida MH, Clarke CM, Doggett B, Xing L, Boyce BF,. Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank. J Bone Miner Res. 2004; 19: 1689-97. (Pubitemid 41094332)
11. Helfrich M, Perdu B, Coxon F,. Human recessive osteopetrosis-new understanding of osteoclast function through molecular and functional analysis of rare genetic bone disease. Osteologie. 2009; 18: 260-7.
12. Piçtosa B, Wolska-Kuśnierz B, Pac M, Siewiera K, Gałkowska E, Bernatowska E,. B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood. Cytometry B Clin Cytom. 2010; 78: 372-81.
13. Flanagan AM, Massey HM, Wilson C, Vellodi A, Horton MA, Steward CG,. Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro. Bone. 2002; 30: 85-90. (Pubitemid 34044305)
14. Nicholls BM, Bredius RG, Hamdy NA, Gerritsen EJ, Lankester AC, Hogendoorn PC, Nesbitt SA, Horton MA, Flanagan AM,. Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. J Bone Miner Res. 2005; 20: 2264-70. (Pubitemid 41698789)
15. Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD,. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol. 2009; 84: 473-9.
16. Driessen GJ, Gerritsen EJ, Fischer A, Fasth A, Hop WC, Veys P, Porta F, Cant A, Steward CG, Vossen JM, Uckan D, Friedrich W,. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant. 2003; 32: 657-63. (Pubitemid 37258621)
17. Rawlinson PS, Green RH, Coggins AM, Boyle IT, Gibson BE,. Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation. Arch Dis Child. 1991; 66: 638-9.
18. Dini G, Floris R, Garaventa A, Oddone M, De Stefano F, De Marco R, Calcagno E, Faraci M, Claudiani F, Manfredini L, Dallorso S, Lanino E, Morreale G,. Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation. Bone Marrow Transplant. 2000; 26: 219-24. (Pubitemid 30496971)
19. Martinez C, Polgreen LE, DeFor TE, Kivisto T, Petryk A, Tolar J, Orchard PJ,. Characterization and management of hypercalcemia following transplantation for osteopetrosis. Bone Marrow Transplant. 2010; 45: 939-44.
20. Liu C, Walter TS, Huang P, Zhang S, Zhu X, Wu Y, Wedderburn LR, Tang P, Owens RJ, Stuart DI, Ren J, Gao B,. Structural and functional insights of RANKL-RANK interaction and signaling. J Immunol. 2010; 184: 6910-9.
21. Ta HM, Nguyen GT, Jin HM, Choi J, Park H, Kim N, Hwang HY, Kim KK,. Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis. Proc Natl Acad Sci USA. 2010; 107: 20281-6.
22. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM,. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988; 2: 90-5.
23. Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A,. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc Natl Acad Sci USA. 2000; 97: 14572-7. (Pubitemid 32016617)
24. Sánchez-Sánchez F, Ramírez-Castillejo C, Weekes DB, Beneyto M, Prieto F, Nájera C, Mittnacht S,. Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. Hum Mutat. 2007; 28: 159-67. (Pubitemid 46233313)