Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 909-916

  Kantaputra, Piranit Nik ^a   Thawanaphong, Saranya ^a   Issarangporn, Witchapong ^a   Klangsinsirikul, Phennapha ^a   Ohazama, Atsushi ^b   Sharpe, Paul ^b   Supanchart, Chayarop ^a  

^a CHIANG MAI UNIVERSITY   (Thailand)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Bone resorption; Calcification of stylohyoid ligament; CLCN7; Dental anomaly; Osteoclast; Osteoclastogenesis; Osteomyelitis; Osteosclerosis; Unerupted teeth; Visual impairment

Indexed keywords

ACIDIFICATION; ADOLESCENT; ADULT; ALBERS SCHOENBERG DISEASE; ALCOHOL LIVER DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CALCIFICATION; CASE REPORT; CLCN7 GENE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONVERGENT STRABISMUS; CURETTAGE; DISEASE SEVERITY; EXOPHTHALMOS; GENE; GENE MUTATION; HEARING LOSS; HEMATOPOIESIS; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOPLASIA; INFANT; INFANTILE MALIGNANT AUTOSOMAL RECESSIVE OSTEOPETROSIS; ISCHIAL TUBEROSITY; MALE; MANDIBLE RESECTION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OSTEOCLASTOGENESIS; OSTEOSCLEROSIS; PANCYTOPENIA; PRIORITY JOURNAL; SHORT STATURE; SURVIVAL TIME; TCIRG1 GENE; VISUAL IMPAIRMENT;

ADULT; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; OSTEOCLASTS; OSTEOPETROSIS; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84859003377     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35264     Document Type: Article

References (26)

1. Campos-Xavier AB, Casanova JL, Doumaz Y, Feingold J, Munnich A, Cormier-Daire V. 2005. Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations. Am J Med Genet Part A 133A: 216- 218.
2. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R. 2002. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415: 287- 294.
3. Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, et al. 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.
4. Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, et al. 2003. Chloride channel CLCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18: 1740- 1747.
5. Helfrich MH. 2005. Osteoclast diseases and dental abnormalities. Arch Oral Biol 50: 115- 122.
6. Jansen ID, Mardones P, Lecanda F, de Vries TJ, Recalde S, Hoeben KA, Schoenmaker T, Ravesloot JH, van Borren MM, van Eijden TM, et al. 2009. Ae2(a, b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria. FASEB J 23: 3470- 3481.
7. Jentsch TJ. 2008. CLC chloride channels and transporters: From genes to protein structure, pathology and physiology. Crit Rev Biochem Mol Biol 43: 3- 36.
8. Karsdal MA, Neutzsky-Wulff AV, Dziegiel MH, Christiansen C, Henriksen K. 2008. Osteoclasts secrete non-bone derived signals that induce bone formation. Biochem Biophys Res Commun 366: 483- 488.
9. Kornak U, Kasper D, Bösl 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.
10. 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.
11. Krithika C, Neelakandan RS, Sivapathasundaram B, Koteeswaran D, Rajaram PC, Shetkar GS. 2009. Osteopetrosis-associated osteomyelitis of the jaws: A report of 4 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 108: e56- e65.
12. Neutzsky-Wulff AV, Sims NA, Supanchart C, Kornak U, Felsenberg D, Poulton IJ, Martin TJ, Karsdal MA, Henriksen K. 2010. Severe developmental bone phenotype in ClC-7 deficient mice. Dev Biol 344: 1001- 1010.
13. O Carroll MK. 1984. Calcification in the stylohyoid ligament. Oral Surg Oral Med Oral Pathol 58: 617- 621.
14. Ohazama A, Johnson EB, Ota MS, Choi HY, Porntaveetus T, Oommen S, Itoh N, Eto K, Gritli-Linde A, Herz J, et al. 2008. Lrp4 modulates extracellular integration of cell signaling pathways in development. PLoS One 3: e4092.
15. Ohazama A, Courtney JM, Sharpe PT. 2004. Opg, Rank, and Rankl in tooth development: Co-ordination of odontogenesis and osteogenesis. J Dent Res 83: 241- 2244.
16. Okada Y, Shimizu T, Maeno E, Tanabe S, Wang X, Takahashi N. 2006. Volume-sensitive chloride channels involved in apoptotic volume decrease and cell death. J Membr Biol 209: 21- 29.
17. Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, et al. 2010. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations. Hum Mutat 31: E1071- E1780.
18. Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U. 2010. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Indian J Med Res 131: 508- 514.
19. Quarello P, Forni M, Barberis L, Defilippi C, Campagnoli MF, Silvestro L, Frattini A, Chalhoub N, Vacher J, Ramenghi U. 2004. Severe malignant osteopetrosis caused by a GL gene mutation. J Bone Miner Res 19: 1194- 1199.
20. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, et al. 2001. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 10: 1767- 1773.
21. Steward CG. 2003. Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 29: 87- 97.
22. Stocks RM, Wang WC, Thompson JW, Stocks MC II, Horwitz EM. 1998. Malignant infantile osteopetrosis: Otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 124: 689- 694.
23. Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C. 2009. Infantile malignant, autosomal recessive osteopetrosis: The rich and the poor. Calcif Tissue Int 84: 1- 12.
24. Villa A, Vezzoni P, Frattini A. 2006. Osteopetroses and immunodeficiencies in humans. Curr Opin Allergy Clin Immunol 6: 421- 427.
25. Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. 2007. Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab 92: 771- 778.
26. Wang Z, McCauley LK. 2011. Osteoclasts and odontoclasts: Signaling pathways to development and disease. Oral Dis 17: 129- 142.