Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis

Indian Journal of Medical Research

Volumn 131, Issue 4, 2010, Pages 508-514

  Phadke, Shubha R ^a   Fischer, Bjoern ^b   Gupta, Neerja ^c   Ranganath, Prajnya ^a   Kabra, Madhulika ^c   Kornak, Uwe ^b,d  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Autosomal recessive; CLCN7; India; Infantile; Malignant osteopetrosis; Mutations; TCIRG1

Indexed keywords

AMINO ACID; CHLORIDE CHANNEL; GENE PRODUCT; GENOMIC DNA; PROTEIN CLCN7; PROTEIN TCIRG1; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE INFANTILE MALIGNANT OSTEOPETROSIS; BONE DENSITY; CHILD; CHORION VILLUS; CLINICAL ARTICLE; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GESTATION PERIOD; HUMAN; INDIA; INFANT; MALE; NUCLEOTIDE SEQUENCE; PERINATAL PERIOD; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; STOP CODON; VISUAL IMPAIRMENT;

CHLORIDE CHANNELS; FEMALE; GENES, RECESSIVE; HUMANS; INDIA; INFANT; MALE; MUTATION; OSTEOPETROSIS; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 77951080382     PISSN: 09715916     EISSN: 09715916     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Datta V, Prajapati Nc, Kamble M, Pathak S. Osteopetrorickets. Indian Pediatr 2000; 37: 98-9.
2. Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS. Malignant recessive osteopetrosis. Indian Pediatr 1999; 36: 69-74.
3. Frattini A, Orchard PJ, Sobacchi c, Giliani S, Abinun M, Mattsson JP, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000; 25: 343-6.
4. Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, et al. Mutations in the a3 subunit of the vacuolar H(+)- ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 2000; 9: 2059-63.
5. chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003; 9: 399-406.
6. Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, et al. Loss of the clc-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001; 104: 205-15.
7. Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, et al. A new heterozygous mutation (R714c) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRAcP secretion in osteoclasts. J Bone Miner Res 2008; 23: 380-91.
8. Van Wesenbeeck L, Odgren PR, coxon FP, Frattini A, Moens P, Perdu B, et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest 2007; 117: 919-30.
9. Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 1983; 80: 2752-6.
10. Sobacchi c, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet 2007; 39: 960-2.
11. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet 2008; 83: 64-76.
12. Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle c, et al. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum Mutat 2004; 23: 471-6.
13. Dutzler R, campbell EB, cadene M, chait BT, MacKinnon R. X-ray structure of a clc chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002; 415: 287-94.
14. Steward CG, Pellier I, Mahajan A, Ashworth MT, Stuart AG, Fasth A, et al. Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis. Br J Haematol 2004; 124: 63-71.
15. Del Fattore A, cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone 2008; 42: 19-29.
16. Susani L, Pangrazio A, Sobacchi c, Taranta A, Mortier G, Savarirayan R, et al. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 2004; 24: 225-35.
17. Steward CG. Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003; 29: 87-97.
18. Frattini A, Pangrazio A, Susani L, Sobacchi c, Mirolo M, Abinun M, et al. chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003; 18: 1740-7.
19. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10: 1767-73.
20. Supanchart C, Kornak U. Ion channels and transporters in osteoclasts. Arch Biochem Biophys 2008; 473: 161-5.
21. Estevez R, Schroeder BC, Accardi A, Jentsch TJ, Pusch M. Conservation of chloride channel structure revealed by an inhibitor binding site in clc-1. Neuron 2003; 38: 47-59.
22. camera G, centa A, Zucchinetti P, Ferraiolo G, Frarricciardi M, Marino R, et al. Osteopetrosis: description of 2 cases, non-familial, of the fatal infantile form and of a case of the mild adult form. Impossibility of performing early prenatal diagnosis. Pathologica 1989; 81: 617-25.
23. Ogur G, Ogur E, celasun B, Baser I, Imirzalioglu N, Ozturk T, et al. Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. Prenat Diagn 1995; 15: 477-81.