Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

Journal of Bone and Mineral Metabolism

Volumn 29, Issue 2, 2011, Pages 251-256

  Yuan, Ping ^a   Yue, Zhihui ^a   Sun, Liangzhong ^a   Huang, Weijun ^a   Hu, Bin ^a   Yang, Zhiyun ^a   Hu, Yuelin ^b   Xiao, Hua ^c   Shi, Hui ^b   Zhou, Qing ^d   Wang, Yiming ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b GUANGZHOU WOMEN AND CHILDREN S MEDICAL CENTER   (China)

^c GUANGZHOU WOMEN AND CHILDREN S MEDICAL CENTER   (China)

^d People's Hospital of Yudu County   (China)

Author keywords

Infantile malignant osteopetrosis; Novel mutation; Osteopetrosis; Proton pump; TCIRG1

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CELL SURFACE PROTEIN; TCIRG1 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; BONE DENSITY; BONE RADIOGRAPHY; CARBOXY TERMINAL SEQUENCE; CHINA; CLINICAL FEATURE; FEMALE; FEVER; FLU LIKE SYNDROME; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; IMAGE ANALYSIS; INFANTILE MALIGNANT OSTEOPETROSIS; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON; TCIRG1 GENE;

HUMANS; INFANT, NEWBORN; MUTATION; OSTEOPETROSIS; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 79960006177     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-010-0228-6     Document Type: Article

References (31)

1. Loría-Cortés R, Quesada-Calvo E, Cordero-Chaverri C (1977) Osteopetrosis in children: a report of 26 cases. J Pediatr 91: 43-47 (Pubitemid 8179713)
2. Tolar J, Teitelbaum SL, Orchard PJ (2004) Osteopetrosis. N Engl J Med 351:2839-2849
3. Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C (2000) Mutations in the a3 subunit of the vacuolar H?-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9:2059-2063 (Pubitemid 30642671)
4. Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25: 343-346 (Pubitemid 30437326)
5. Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A et al (2007) Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet 39:960-962 (Pubitemid 47185178)
6. Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE (1991) Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-Tyr): complete structure of the normal human CA II gene. Am J Hum Genet 49:1082-1090 (Pubitemid 21891755)
7. Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205-215 (Pubitemid 32174837)
8. Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J (2003) Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 9:399-406 (Pubitemid 36460073)
9. Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W (2007) Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest 117:919-930 (Pubitemid 46556748)
10. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS et al (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet 83:64-76 (Pubitemid 351916706)
11. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I et al (2001) The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10:1767-1773 (Pubitemid 32899094)
12. Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF (2003) Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. Hum Mutat 21:151-157 (Pubitemid 36184138)
13. Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F (2004) TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 24:225-235 (Pubitemid 39095599)
14. Baron R, Neff L, Louvard D, Courtoy PJ (1985) Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border. J Cell Biol 101:2210-2222 (Pubitemid 16169951)
15. Nishi T, Forgac M (2002) The vacuolar (H?)-ATPases-nature's most versatile proton pumps. Nat Rev Mol Cell Biol 3:94-103
16. Manolson MF, Yu H, Chen W, Yao Y, Li K, Lees RL, Heersche JN (2003) The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (C10 nuclei) and small (B5 nuclei) osteoclasts. J Biol Chem 278:49271-49278
17. Jaing TH, Hou JW, Chen SH, Huang IA, Wang CJ, Lee WI (2006) Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis. Pediatr Transplant 10:629-631
18. Stark Z, Savarirayan R (2009) Osteopetrosis. Orphanet J Rare Dis 4:5
19. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12 (Pubitemid 30036162)
20. Thompson JD, Gibson TJ, Plewniak F, Jeanmougin F, Higgins DG (1997) The CLUSTAL-X Windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 25:4876-4882
21. Keshava PT, Goel R, Kandasamy K, Keerthikumar S, Kumar S et al (2009) Human protein reference database-2009 update. Nucleic Acids Res 37:D767-D772
22. Zhang MH, Yu LC (2002) Appendix: reference ranges for laboratory tests. In: Hu YM, Jiang ZF (eds) Zhu Futang textbook of pediatrics (in Chinese), 7th edn. People's Medical Publishing House, Beijing, pp 2684-2685
23. Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, Lefranc G, Frattini A, Megarbane A (2007) Molecular study of six families originating from the Middle East and presenting with autosomal recessive osteopetrosis. Eur J Med Genet 50:188-199 (Pubitemid 46765251)
24. Li YP, Chen W, Stashenko P (1996) Molecular cloning and characterization of a putative novel human osteoclast-specific 116-kDa vacuolar proton pump subunit. Biochem Biophys Res Commun 218:813-821 (Pubitemid 26050746)
25. Utku N, Heinemann T, Tullius SG, Bulwin GC, Beinke S, Blumberg RS, Beato F, Randall J, Kojima R, Busconi L, Robertson ES, Schülein R, Volk HD, Milford EL, Gullans SR (1998) Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein. Immunity 9:509-518 (Pubitemid 28499202)
26. Strachan T, Read A (2010) Human molecular genetics, 4th edn. Garland Science, New York
27. Lange PF, Wartosch L, Jentsch TJ, Fuhrmann JC (2006) ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature 440:220-223 (Pubitemid 43372100)
28. Cleiren E, Bénichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, de Vernejoul MC, Van Hul W (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10:2861-2867 (Pubitemid 34030917)
29. de Varnejoul MC, Schulz A, Kornak U (2007) GENEReviews: CLCN7-related osteopetrosis. http://www.ncbi.nlm.nih.gov/bookshelf/ br.fcgi?book= gene&part=clcn7
30. Zhang ZL, He JW, Zhang H, Hu WW, Fu WZ, Gu JM, Yu JB, Gao G, Hu YQ, Li M, Liu YJ (2009) Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). J Bone Miner Metab 27:444-451
31. Chu K, Koller DL, Snyder R, Fishburn T, Lai D, Waguespack SG, Foroud T, Econs MJ (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone 37:655-661 (Pubitemid 41476388)