TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Andreucci, Elena ^a,b   Aftimos, Salim ^c   Alcausin, Melanie ^d   Haan, Eric ^e   Hunter, Warwick ^f   Kannu, Peter ^g   Kerr, Bronwyn ^h   McGillivray, George ^a   Gardner, R J McKinlay ^c   Patricelli, Maria G ⁱ   Sillence, David ^d   Thompson, Elizabeth ^e   Zacharin, Margaret ^j   Zankl, Andreas ^k,l   Lamandé, Shireen R ^j   Savarirayan, Ravi ^a  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF FLORENCE   (Italy)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d UNIVERSITY OF SYDNEY   (Australia)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f Paediatrician Midcentral District Heath Board   (New Zealand)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h ST MARY S HOSPITAL   (United Kingdom)

ⁱ Diagnostica e Ricerca San Raffaele   (Italy)

^j ROYAL CHILDREN'S HOSPITAL   (Australia)

^k ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^l UNIVERSITY OF QUEENSLAND   (Australia)

more..

Author keywords

Autosomal Dominant Brachyolmia (ADBO); Metatropic Dysplasia (MD); Spondilometaphyseal Dysplasia Kozlowski Type (SMDK); TRPV4

Indexed keywords

VANILLOID RECEPTOR 4; TRPV4 PROTEIN, HUMAN; VANILLOID RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT BRACHYOLMIA; BONE DYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DATA ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MEDICAL RECORD; METAPHYSIS; METATROPIC DYSPLASIA; MOLECULAR BIOLOGY; PHENOTYPE; RADIOGRAPHY; SCOLIOSIS; SHORT STATURE; SPONDILOMETAPHYSEAL DYSPLASIA KOZLOWSKI TYPE; ADULT; BRACHYOLMIA; CASE REPORT; CHONDRODYSPLASIA; CLASSIFICATION; DWARFISM; FAMILY; FEMALE; GENETICS; INFANT; MALE; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ADULT; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DWARFISM; FAMILY; FEMALE; HUMANS; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; TRPV CATION CHANNELS;

EID: 79958058425     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-37     Document Type: Article

References (23)

1. Metatropic Dysplasia: Clinical and Radiographic Findings in 11 Patients Demonstrating Long-Term Natural History. P Kannu S Aftimos V Mayne L Donnan R Savarirayan, Am J Med Genet A 2007 143A 2512 2522 10.1002/ajmg.a.31941 17879966 (Pubitemid 350058163)
2. Heterogeneity of metatropic dysplasia. M Beck M Roubicek JG Rogers P Naumoff J Spranger, Eur J Pediatr 1983 140 231 237 10.1007/BF00443368 6628444 (Pubitemid 13026977)
3. Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia. N Camacho D Krakow S Johnykutty PJ Katzman S Pepkowitz J Vriens B Nilius BF Boyce DH Cohn, Am J Med Genet A 2010 152A 1169 1177 10.1002/ajmg.a.33392 20425821
4. Spondylometaphyseal Dysplasia. GW Le Quesne K Kozlowski, Br J Radiol 1973 46 685 691 10.1259/0007-1285-46-549-685 4199241
5. Kozlowski type spondylometaphyseal dysplasia: a case report with literature review. MS Nural HB Diren O Sakarya T Yalin A Dademir, Diagn Interv Radiol 2006 12 70 73 16752352 (Pubitemid 43871349)
6. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia. D Krakow J Vriens N Camacho P Luong H Deixler TL Funari CA Bacino MB Irons IA Holm L Sadler EB Okenfuss A Janssens T Voets DL Rimoin RS Lachman B Nilius DH Cohn, Am J Hum Genet 2009 84 307 315 10.1016/j.ajhg.2009.01.021 19232556
7. Brachyolmia: Radiographic and Genetic Evidence of Heterogeneity. M Shohat R Lachman HE Gruber DL Rimoin, Am J Med Genet 1989 33 209 219 10.1002/ajmg.1320330214 2669482 (Pubitemid 19190016)
8. Nosology and Classification of Genetic Skeletal Disorders: 2006 Revision. A Superti-Furga S Unger Nosology Group of International Skeletal Dysplasia Society, Am J Med Genet A 2010 143A 1 18 (Pubitemid 46051466)
9. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. MJ Rock J Prenen VA Funari TL Funari B Merriman SF Nelson RS Lachman WR Wilcox S Reyno R Quadrelli A Vaglio G Owsianik A Janssens T Voets S Ikegawa T Nagai DL Rimoin B Nilius DH Cohn, Nat Genet 2008 40 999 1003 10.1038/ng.166 18587396
10. Cell swelling, heat and chemical agonists use distinct pathways for the activation of the cation channel TRPV4. J Vriens H Watanabe A Janssens G Droogmans T Voets B Nilius, Proc Natl Acad Sci USA 2004 101 396 401 14691263 (Pubitemid 38084261)
11. Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss. F Mizoguchi A Mizuno T Hayata K Nakashima S Heller T Ushida M Sokabe N Miyasaka M Suzuki Y Ezura M Noda, J Cell Physiol 2008 216 47 53 10.1002/jcp.21374 18264976 (Pubitemid 351813094)
12. Global comparative transcriptome analysis of cartilage formation in vivo. TL Cameron D Belluoccio PG Farlie B Brachvogel JF Bateman, BMC Dev Biol 2009 9 20 36 10.1186/1471-213X-9-20 19272164
13. Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. S Muramatsu M Wakabayashi T Ohno K Amano R Ooishi T Sugahara S Shiojiri K Tashiro Y Suzuki R Nishimura S Kuhara S Sugano T Yoneda A Matsuda, J Biol Chem 2007 282 32158 32167 10.1074/jbc.M706158200 17804410 (Pubitemid 350106454)
14. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Dai OH Kim TJ Cho M Schmidt-Rimpler H Tonoki K Takikawa N Haga K Miyoshi H Kitoh WJ Yoo IH Choi HR Song DK Jin HT Kim H Kamasaki P Bianchi G Grigelioniene S Nampoothiri M Minagawa SI Miyagawa T Fukao C Marcelis MCE Jansweijer RCM Hennekam F Bedeschi A Mustonen Q Jiang H Ohashi T Furuichi S Unger B Zabel E Laush A Superti-Furga G Nishimura S Ikegawa, J Med Genet 2010 47 704 709 10.1136/jmg.2009.075358 20577006
15. Lethal metatropic dysplasia: a case report. B Kumar P Kannu R Savarirayan Y Chan, Pathology 2007 39 177 181 10.1080/00313020601123854 17365839
16. Spondylo-metaphyseal Dysplasia (report of 7 cases and essay of classification). K Kozlowski FA Beemer G Bens PF Dijkstra G Iannaccone D Emons P Lopez-Ruiz J Masel O Van Nieuwenhuizen C Rodriguez-Barrionuevo, Prog Clin Biol Res 1982 104 89 101 7163293
17. The spondylometaphyseal dysplasias. A tentative classification. P Maroteaux J Spranger, Pediatr Radiol 1991 21 293 297 10.1007/BF02018629 1870931
18. Brachyolmia: an Autosomal Dominant Form. J Gardner P Beighton, Am J Med Genet 1994 49 308 312 10.1002/ajmg.1320490313 8209891 (Pubitemid 24042008)
19. Determinants of 4 alpha-phrobol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4. J Vriens G Owsianik A Janssens T Voets B Nilius, J Biol Chem 2007 282 12796 12803 10.1074/jbc.M610485200 17341586 (Pubitemid 47100616)
20. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. M Auer-Grumbach A Olschewski L Papi H Kremer ME McEntagart S Uhrig C Fischer E Fröhlich Z Bálint B Tang H Strohmaier H Lochmüller B Schlotter-Weigel J Senderek A Krebs KJ Dick R Petty C Longman NE Anderson GW Padberg HJ Schelhaas CMA Van Ravenswaaij-Arts TR Pieber AH Crosby C Guelly, Nat Genet 2010 42 160 164 10.1038/ng.508 20037588
21. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. HX Deng CJ Klein J Yan Y Shi Y Wu F Fecto HJ Yau Y Yang H Zhai N Siddique ET Hedley-Whyte R DeLong M Martina PJ Dyck T Siddique, Nat Genet 2010 42 165 169 10.1038/ng.509 20037587
22. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. G Landouré AA Zdebik TL Martinez BG Burnett HC Stanescu H Inada Y Shi AA Taye L Kong CH Munns SS Choo CB Phelps R Paudel H Houlden CL Ludlow MJ Caterina R Gaudet R Kleta KH Fischbeck CJ Sumner, Nat Genet 2010 42 170 174 10.1038/ng.512 20037586
23. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. G Nishimura J Dai E Lausch S Unger A Megardbané H Kitoh OH Kim TJ Cho F Bedeschi F Benedicenti R Mendoza-Londono M Silengo M Schmidt-Rempler J Spranger B Zabel S Ikegawa A Superti-Furga, Am J Med Genet A 2010 152A 1443 1449 20503319