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Addendum

Common skeletal features in rare diseases

New links between ciliopathies and FGF-related syndromes

&
Article: e27109 | Received 19 Aug 2013, Accepted 06 Nov 2013, Published online: 11 Nov 2013

References

  • Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002; 16:1446 - 65; http://dx.doi.org/10.1101/gad.990702; PMID: 12080084
  • Mohammadi M, Olsen SK, Ibrahimi OA. Structural basis for fibroblast growth factor receptor activation. Cytokine Growth Factor Rev 2005; 16:107 - 37; http://dx.doi.org/10.1016/j.cytogfr.2005.01.008; PMID: 15863029
  • Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 2009; 111:39 - 53; http://dx.doi.org/10.1159/000208212; PMID: 19276629
  • Rossman CM, Forrest JB, Lee RM, Newhouse MT. The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest 1980; 78:580 - 2; http://dx.doi.org/10.1378/chest.78.4.580; PMID: 6448132
  • Eggenschwiler JT, Anderson KV. Cilia and developmental signaling. Annu Rev Cell Dev Biol 2007; 23:345 - 73; http://dx.doi.org/10.1146/annurev.cellbio.23.090506.123249; PMID: 17506691
  • Haycraft CJ, Serra R. Cilia involvement in patterning and maintenance of the skeleton. Curr Top Dev Biol 2008; 85:303 - 32; http://dx.doi.org/10.1016/S0070-2153(08)00811-9; PMID: 19147010
  • David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 1999; 36:599 - 603; PMID: 10465109
  • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36:437 - 46; PMID: 10874630
  • Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, et al. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet 2013; 50:91 - 8; http://dx.doi.org/10.1136/jmedgenet-2012-101282; PMID: 23339108
  • Brugmann SA, Cordero DR, Helms JA. Craniofacial ciliopathies: A new classification for craniofacial disorders. Am J Med Genet A 2010; 152A:2995 - 3006; http://dx.doi.org/10.1002/ajmg.a.33727; PMID: 21108387
  • Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 2009; 151C:318 - 25; http://dx.doi.org/10.1002/ajmg.c.30224; PMID: 19876934
  • Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, et al. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010; 86:949 - 56; http://dx.doi.org/10.1016/j.ajhg.2010.04.012; PMID: 20493458
  • Levin LS, Perrin JC, Ose L, Dorst JP, Miller JD, McKusick VA. A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr 1977; 90:55 - 61; http://dx.doi.org/10.1016/S0022-3476(77)80764-6; PMID: 830894
  • Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E. Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. Hum Mol Genet 2011; 20:4324 - 33; http://dx.doi.org/10.1093/hmg/ddr359; PMID: 21840926
  • Park TJ, Haigo SL, Wallingford JB. Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat Genet 2006; 38:303 - 11; http://dx.doi.org/10.1038/ng1753; PMID: 16493421
  • Heydeck W, Zeng H, Liu A. Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse. Dev Dyn 2009; 238:3035 - 42; http://dx.doi.org/10.1002/dvdy.22130; PMID: 19877275
  • Gray RS, Abitua PB, Wlodarczyk BJ, Szabo-Rogers HL, Blanchard O, Lee I, Weiss GS, Liu KJ, Marcotte EM, Wallingford JB, et al. The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Nat Cell Biol 2009; 11:1225 - 32; http://dx.doi.org/10.1038/ncb1966; PMID: 19767740
  • Tabler JM, Barrell WB, Szabo-Rogers HL, Healy C, Yeung Y, Perdiguero EG, Schulz C, Yannakoudakis BZ, Mesbahi A, Wlodarczyk B, et al. Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes. Dev Cell 2013; 25:623 - 35; http://dx.doi.org/10.1016/j.devcel.2013.05.021; PMID: 23806618
  • Cohen MM Jr., Kreiborg S. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 1993; 47:624 - 32; http://dx.doi.org/10.1002/ajmg.1320470509; PMID: 8266987
  • Hennekam R, et al. Gorlin's Syndromes of the Head and Neck Oxford University Press, USA, 2010.
  • Hemmer KM, McAlister WH, Marsh JL. Cervical spine anomalies in the craniosynostosis syndromes. Cleft Palate J 1987; 24:328 - 33; PMID: 3479279
  • Moore MH, Cantrell SB, Trott JA, David DJ. Pfeiffer syndrome: a clinical review. Cleft Palate Craniofac J 1995; 32:62 - 70; http://dx.doi.org/10.1597/1545-1569(1995)032<0062:PSACR>2.3.CO;2; PMID: 7727489
  • Moore MH, Lodge ML, Clark BE. Spinal anomalies in Pfeiffer syndrome. Cleft Palate Craniofac J 1995; 32:251 - 4; http://dx.doi.org/10.1597/1545-1569(1995)032<0251:SAIPS>2.3.CO;2; PMID: 7605793
  • Anderson PJ, Hall CM, Evans RD, Hayward RD, Harkness WJ, Jones BM. The cervical spine in Saethre-Chotzen syndrome. Cleft Palate Craniofac J 1997; 34:79 - 82; http://dx.doi.org/10.1597/1545-1569(1997)034<0079:TCSISC>2.3.CO;2; PMID: 9003917
  • Khanna AJ, Braverman NE, Valle D, Sponseller PD. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet 2001; 99:63 - 6; http://dx.doi.org/10.1002/1096-8628(20010215)99:1<63::AID-AJMG1117>3.0.CO;2-9; PMID: 11170096
  • Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O’Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, et al. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 2012; 149:295 - 306; http://dx.doi.org/10.1016/j.cell.2012.02.054; PMID: 22484060
  • Hajihosseini MK, Lalioti MD, Arthaud S, Burgar HR, Brown JM, Twigg SR, Wilkie AO, Heath JK. Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics. Development 2004; 131:325 - 35; http://dx.doi.org/10.1242/dev.00940; PMID: 14668415
  • Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathol 2012; 123:695 - 709; http://dx.doi.org/10.1007/s00401-012-0951-2; PMID: 22331178
  • Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci U S A 2001; 98:3855 - 60; http://dx.doi.org/10.1073/pnas.071586898; PMID: 11274405
  • Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, et al. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 2005; 132:3537 - 48; http://dx.doi.org/10.1242/dev.01914; PMID: 15975938
  • Wang Q, Green RP, Zhao G, Ornitz DM. Differential regulation of endochondral bone growth and joint development by FGFR1 and FGFR3 tyrosine kinase domains. Development 2001; 128:3867 - 76; PMID: 11585811
  • Hoeffel JC, Pernot C, Juncker P. Radiologic patterns of the sternum in Noonan’s syndrome with congenital heart defect. Am J Dis Child 1981; 135:1044 - 6; PMID: 6794358
  • Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70:1555 - 63; http://dx.doi.org/10.1086/340847; PMID: 11992261
  • Zhang Q, Murcia NS, Chittenden LR, Richards WG, Michaud EJ, Woychik RP, Yoder BK. Loss of the Tg737 protein results in skeletal patterning defects. Dev Dyn 2003; 227:78 - 90; http://dx.doi.org/10.1002/dvdy.10289; PMID: 12701101
  • Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, et al. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech 2011; 4:43 - 56; http://dx.doi.org/10.1242/dmm.006262; PMID: 21045211
  • Mo R, Freer AM, Zinyk DL, Crackower MA, Michaud J, Heng HH, Chik KW, Shi XM, Tsui LC, Cheng SH, et al. Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 1997; 124:113 - 23; PMID: 9006072
  • Waters A, et al. Bardet-Biedl Syndrome. In: RA P, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 2011.
  • Ho NC, Francomano CA, van Allen M. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Am J Med Genet 2000; 90:310 - 4; http://dx.doi.org/10.1002/(SICI)1096-8628(20000214)90:4<310::AID-AJMG9>3.0.CO;2-N; PMID: 10710229
  • Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011; 89:634 - 43; http://dx.doi.org/10.1016/j.ajhg.2011.10.001; PMID: 22019273
  • Sensenbrenner JA, Dorst JP, Owens RP. New syndrome of skeletal, dental and hair anomalies. Birth Defects Orig Artic Ser 1975; 11:372 - 9; PMID: 1227553
  • Young ID. Cranioectodermal dysplasia (Sensenbrenner’s syndrome). J Med Genet 1989; 26:393 - 6; http://dx.doi.org/10.1136/jmg.26.6.393; PMID: 2661822
  • Smith HL, Hand AM. Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases. Pediatrics 1958; 21:298 - 307; PMID: 13505024
  • Weatherbee SD, Niswander LA, Anderson KV. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet 2009; 18:4565 - 75; http://dx.doi.org/10.1093/hmg/ddp422; PMID: 19776033
  • Pacheco M, Valencia M, Caparrós-Martín JA, Mulero F, Goodship JA, Ruiz-Perez VL. Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. Bone 2012; 50:28 - 41; http://dx.doi.org/10.1016/j.bone.2011.08.025; PMID: 21911092
  • Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development 2007; 134:2903 - 12; http://dx.doi.org/10.1242/dev.007542; PMID: 17660199
  • Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006; 38:112 - 7; http://dx.doi.org/10.1038/ng1684; PMID: 16311594
  • Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B. Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol 2011; 349:179 - 91; http://dx.doi.org/10.1016/j.ydbio.2010.09.020; PMID: 20920500
  • Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA, Keighren M, Bahlo M, Bromhead CJ, Budd P, et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 2011; 88:508 - 15; http://dx.doi.org/10.1016/j.ajhg.2011.03.015; PMID: 21473986
  • Rynearson RD. Case report: orthodontic and dentofacial orthopedic considerations in Apert’s syndrome. Angle Orthod 2000; 70:247 - 52; PMID: 10926435
  • Anderson PJ, Hall C, Evans RD, Harkness WJ, Hayward RD, Jones BM. The cervical spine in Crouzon syndrome. Spine (Phila Pa 1976) 1997; 22:402 - 5; http://dx.doi.org/10.1097/00007632-199702150-00009; PMID: 9055367
  • Eswarakumar VP, Ozcan F, Lew ED, Bae JH, Tomé F, Booth CJ, Adams DJ, Lax I, Schlessinger J. Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. Proc Natl Acad Sci U S A 2006; 103:18603 - 8; http://dx.doi.org/10.1073/pnas.0609157103; PMID: 17132737
  • Perlyn CA, DeLeon VB, Babbs C, Govier D, Burell L, Darvann T, Kreiborg S, Morriss-Kay G. The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT. Cleft Palate Craniofac J 2006; 43:740 - 8; http://dx.doi.org/10.1597/05-212; PMID: 17105336
  • Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10:357 - 9; http://dx.doi.org/10.1038/ng0795-357; PMID: 7670477
  • Elejalde BR, de Elejalde MM. Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis. Am J Med Genet 1985; 22:669 - 83; http://dx.doi.org/10.1002/ajmg.1320220404; PMID: 4073120
  • Georgoulis G, Alexiou G, Prodromou N. Achondroplasia with synostosis of multiple sutures. Am J Med Genet A 2011; 155A:1969 - 71; http://dx.doi.org/10.1002/ajmg.a.33744; PMID: 21739570
  • Murakami S, Balmes G, McKinney S, Zhang Z, Givol D, de Crombrugghe B. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Genes Dev 2004; 18:290 - 305; http://dx.doi.org/10.1101/gad.1179104; PMID: 14871928
  • Chen L, Adar R, Yang X, Monsonego EO, Li C, Hauschka PV, Yayon A, Deng CX. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. J Clin Invest 1999; 104:1517 - 25; http://dx.doi.org/10.1172/JCI6690; PMID: 10587515