TRPV4-associated skeletal dysplasias

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 3, 2012, Pages 190-204

  Nishimura, Gen ^a   Lausch, Ekkehart ^a   Savarirayan, Ravi ^a   Shiba, Masahiro ^a   Spranger, Juergen ^a   Zabel, Bernhard ^a   Ikegawa, Shiro ^a   Superti Furga, Andrea ^a   Unger, Sheila ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Bone dysplasia; TRPV4

Indexed keywords

CALCIUM CHANNEL; VANILLOID RECEPTOR 4;

ARTHROPATHY; ARTICLE; AUTOSOMAL DOMINANT BRACHYOLMIA; BONE DYSPLASIA; BRACHYDACTYLY; CLINICAL FEATURE; CODON; EXON; FAMILIAL DIGITAL ARTHROPATHY WITH BRACHYDACTYLY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HISTOLOGY; HUMAN; METATROPIC DYSPLASIA; PARASTREMMATIC DYSPLASIA; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SENSORY NEUROPATHY; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA MAROTEAUX TYPE; SPONDYLOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE; VANILLOID RECEPTOR 4 GENE;

BONE DISEASES, DEVELOPMENTAL; GENES, DOMINANT; HUMANS; MUTATION; PHENOTYPE; TRPV CATION CHANNELS;

EID: 84864035686     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31335     Document Type: Article

References (44)

1. Amor DJ, Tudball C, Gardner RJ, Lamandé SR, Bateman JF, Savarirayan R. 2002. Familial digital arthropathy-brachydactyly. Am J Med Genet 108:235-240.
2. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. 2011. TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 6:37.
3. Arniges M, Fernández-Fernández JM, Albrecht N, Schaefer M, Valverde MA. 2006. Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem 281:1580-1586 (Epub 2005 Nov 16). Erratum in: J Biol Chem 2006 Mar 31; 281(13): 8996.
4. Beck M, Roubicek M, Rogers JG, Naumoff P, Spranger J. 1983. Heterogeneity of metatropic dysplasia. Eur J Pediatr 140:231-237.
5. Belik J, Anday EK, Kaplan F, Zackai E. 1985. Respiratory complications of metatropic dwarfism. Clin Pediatr (Phila) 24:504-511.
6. Benfenati V, Amiry-Moghaddam M, Caprini M, Mylonakou MN, Rapisarda C, Ottersen OP, Ferroni S. Expression and functional characterization of transient receptor potential vanilloid-related channel 4 (TRPV4) in rat cortical astrocytes. Neuroscience 2007. 148:876-892.
7. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. 2010. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet Part A 152A:1169-1177.
8. Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. 2010. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 75:1968-1975.
9. Cho T-J, Matsumoto K, Fano V, Dai J, Kim Ok-H, Chae J-H, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S. 2012. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three cases. Am J Med Genet Part A 158A:795-802.
10. Clark AL, Votta BJ, Kumar S, Liedtke W, Guilak F. 2010. Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: Age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice. Arthritis Rheum 62:2973-2983.
11. Cuajungco MP, Grimm C, Oshima K, D'hoedt D, Nilius B, Mensenkamp AR, Bindels RJ, Plomann M, Heller S. 2006. PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. J Biol Chem 281:18753-18762.
12. Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. 2010. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 47:704-709.
13. Doman AN, Maroteaux P, Lyne ED. 1990. Spondyloepiphyseal dysplasia of Maroteaux. J Bone Joint Surg Am 72:1364-1369.
14. Everaerts W, Nilius B, Owsianik G. 2010. The vanilloid transient receptor potential channel TRPV4: From structure to disease. Prog Biophys Mol Biol 103:2-17 (Review).
15. Garcia-Elias A, Lorenzo IM, Vicente R, Valverde MA. 2008. IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli via a calmodulin-binding site. J Biol Chem 283:31284-31288.
16. Geneviève D, Le Merrer M, Munnich A, Maroteaux P, Cormier-Daire V. 2005. Long-term follow-up in a patient with metatropic dysplasia. Am J Med Genet Part A 135A:342-343.
17. Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V. 2008. Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature. Am J Med Genet Part A 146A:992-996.
18. Hall CM, Elçioglu NH. 2004. Metatropic dysplasia lethal variants. Pediatr Radiol 34:66-74.
19. Kannu P, Aftimos S, Mayne V, Donnan L, Savarirayan R. 2007. Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet Part A 143A:2512-2522.
20. Kozlowski K. 1973. Spondylo-metaphyseal-dysplasia. In: Kaufmann HJ, editor. Progress in pediatric radiology, Vol. 4, Intrinsic disease of bone. Basel: S. Karger. pp 299-308.
21. Kozlowski K, Maroteaux P, Spranger JW. 1967. La dysostose spondylo-métaphysaire. Presse Méd 75:2769-2774.
22. Kozlowski K, Campbell J, Anderson B, Erken EH, Jequier S, Nelson M, Sliman N, Sprague P, Tamaela L. 1988. Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol 32:325-337.
23. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. 2009. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet 84:307-315.
24. Lamandé SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF. 2011. Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet 43:1142-1146.
25. Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. 2010. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 42:170-174.
26. Langer LO, Petersen D, Spranger J. 1970. An unusual bone dysplasia: Parastremmatic dwarfism. Am J Roentgenol Radium Ther Nucl Med 110:550-560.
27. Liedtke W, Choe Y, Martí-Renom MA, Bell AM, Denis CS, Sali A, Hudspeth AJ, Friedman JM, Heller S. 2000. Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. Cell 103:525-535.
28. Loukin S, Su Z, Kung C. 2011. Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. PLoS One 6:e19533.
29. Maroteaux P, Spranger J, Wiedemann HR. 1966. Metatropic dwarfism. Arch Kinderheilkd 173:211-226.
30. Maroteaux P, Lamy M, Wiedemann R, Spranger J, Kozlowski K, Lenzi L. 1968. Essai de classification des dysplasia spondylo-epiphysaires. Lyon, France: SIMEP Editions.
31. Masuyama R, Vriens J, Voets T, Karashima Y, Owsianik G, Vennekens R, Lieben L, Torrekens S, Moermans K, Vanden Bosch A, Bouillon R, Nilius B, Carmeliet G. 2008. TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts. Cell Metab 8:257-265.
32. Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M. 2004. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): Report of a new patient and review of the literature. Am J Med Genet Part A 125A:61-66.
33. Muramatsu S, Wakabayashi M, Ohno T, Amano K, Ooishi R, Sugahara T, Shiojiri S, Tashiro K, Suzuki Y, Nishimura R, Kuhara S, Sugano S, Yoneda T, Matsuda A. 2007. Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. J Biol Chem 282:32158-32167.
34. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. 2012. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol 42:15-23.
35. Nilius B, Owsianik G. 2010. Channelopathies converge on TRPV4. Nat Genet 42:98-100.
36. Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T. 2003. Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects. Am J Med Genet Part A 120A:498-502.
37. Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. 2010. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet Part A 152A:1443-1449.
38. Ranganathan R, Ross EM. 1997. PDZ domain proteins: Scaffolds for signaling complexes. Curr Biol 7:R770-R773 (Review).
39. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. 2008. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 40:999-1003.
40. Shohat M, Lachman R, Gruber HE, Rimoin DL. 1989. Brachyolmia: Radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209-219.
41. Spranger J, Maroteaux P. 1990. The lethal osteochondrodysplasias. Adv Hum Genet 19:1-103, 331-332.
42. 2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site. J Biol Chem 278:26541-26549.
43. Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. 2011. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet Part A 155A:2860-2864.
44. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. 2011. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 155A:943-968.