Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1635-1641

  Grigelioniene, Giedre ^a,b   Geiberger, Stefan ^b   Horemuzova, Eva ^a,b   Moström, Eva ^a,b   Jäntti, Nina ^a   Neumeyer, Lo ^b   Åström, Eva ^a,b   Nordenskjöld, Magnus ^a,b   Nordgren, Ann ^a,b   Mäkitie, Outi ^a,b,c  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

Author keywords

Autosomal dominant brachyolmia; Brachydactyly; Brachyolmia type 3; Chronic pain; Overfaced pedicles; Paresthesias; Platyspondyly; Scoliosis; Short spine; TRPV4

Indexed keywords

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

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BRACHYOLMIA TYPE 3; CERVICAL SPINE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; KYPHOSCOLIOSIS; MALE; MISSENSE MUTATION; MUSCULOSKELETAL PAIN; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SWEDEN; TRPV4 GENE; CASE REPORT; GENETIC ASSOCIATION; GENETICS; GENOTYPE; MUTATION; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; PEDIGREE; RADIOGRAPHY; SPINE;

ADULT; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; SPINE; TRPV CATION CHANNELS;

EID: 84902545808     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36502     Document Type: Article

References (28)

1. Amor DJ, Tudball C, Gardner RJ, Lamande 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, Lamande SR, Savarirayan R. 2011. TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted by clinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 6:37.
3. 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.
4. Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, 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 patients. Am J Med Genet A 158A:795-802.
5. Chung MK, Lee H, Caterina MJ. 2003. Warm temperatures activate TRPV4 in mouse 308 keratinocytes. J Biol Chem 278:32037-32046.
6. Chung MK, Lee H, Mizuno A, Suzuki M, Caterina MJ. 2004. TRPV3 and TRPV4 mediate warmth-evoked currents in primary mouse keratinocytes. J Biol Chem 279:21569-21575.
7. Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S. 2010a. TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet 55:400-402.
8. 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. 2010b. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 47:704-709.
9. Fontaine G, Maroteaux P, Farriaux JP, Bosquet M. 1975. Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia. Arch Fr Pediatr 32:493.
10. Gardner J, Beighton P. 1994. Brachyolmia: An autosomal dominant form. Am J Med Genet 49:308-312.
11. Gerver WJM, de Bruin R. 1996. Pediatric morphometrics. Wetenschappelijke uitgeverij Bunge 262 p. ISBN10 (90-6348-129-2) or ISBN13 (978-90-6348-129-2).
12. Horton WA, Langer LO, Collins DL, Dwyer C. 1983. Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study. Am J Med Genet 16:201-211.
13. 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.
14. Lamande 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.
15. 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.
16. Masuyama R, Mizuno A, Komori H, Kajiya H, Uekawa A, Kitaura H, Okabe K, Ohyama K, Komori T. 2012. Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone mass. J Bone Miner Res 27:1708-1721.
17. McEntagart M. 2012. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci 19:927-933.
18. Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S. 2012. PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet 49:533-538.
19. Mizoguchi F, Mizuno A, Hayata T, Nakashima K, Heller S, Ushida T, Sokabe M, Miyasaka N, Suzuki M, Ezura Y, Noda M. 2008. Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss. J Cell Physiol 216:47-53.
20. 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.
21. 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.
22. Nilius B, Voets T. 2013. The puzzle of TRPV4 channelopathies. EMBO Rep 14:152-163.
23. Nishimura G, Dai J, Lausch E, Unger S, Megarbane 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 A 152A:1443-1449.
24. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. 2012. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet 160C:190-204.
25. 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.
26. Shohat M, Lachman R, Gruber HE, Rimoin DL. 1989. Brachyolmia: Radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209-219.
27. Toledo SP, Mourao PA, Lamego C, Alves CA, Dietrich CP, Assis LM, Mattar E. 1978. Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin-6-sulfate synthesis. Am J Med Genet 2:385-395.
28. Verma P, Kumar A, Goswami C. 2010. TRPV4-mediated channelopathies. Channels (Austin) 4:319-328.