Brain phenotypes in two FGFR2 mouse models for Apert syndrome

Developmental Dynamics

Volumn 239, Issue 3, 2010, Pages 987-997

  Aldridge, Kristina ^a   Hill, Cheryl A ^a   Austin, Jordan R ^a   Percival, Christopher ^b   Martinez Abadias, Neus ^b   Neuberger, Thomas ^c   Wang, Yingli ^d   Jabs, Ethylin Wang ^d   Richtsmeier, Joan T ^b  

^a University of Missouri   (United States)

^b PENNSYLVANIA STATE UNIVERSITY   (United States)

^c PENNSYLVANIA STATE UNIVERSITY   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Apert syndrome; Brain; Craniosynostosis; Development; Mouse; Skull; Suture

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ANIMAL MODEL; ARTICLE; BRAIN; BRAIN SIZE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; GENE MUTATION; INBRED STRAIN; MOUSE; NONHUMAN; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING;

ACROCEPHALOSYNDACTYLIA; ANIMALS; BRAIN; CRANIOSYNOSTOSES; DISEASE MODELS, ANIMAL; GENE EXPRESSION REGULATION, DEVELOPMENTAL; MAGNETIC RESONANCE SPECTROSCOPY; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TIME FACTORS; TOMOGRAPHY, X-RAY COMPUTED;

MUS;

EID: 77149127680     PISSN: 10588388     EISSN: 10970177     Source Type: Journal    
DOI: 10.1002/dvdy.22218     Document Type: Article

References (67)

1. Aldridge K, Marsh J, Govier D, Richtsmeier J. 2002. Central nervous system phenotypes in craniosynostosis. J Anat 201:31-39.
2. Aldridge K, Kane A, Marsh J, Panchal J, Boyadijiev S, Yan P, Govier D, Ahmad W, Richtsmeier J. 2005. Brain morphology in nonsyndromic unicoronal craniosynostosis. Anat Rec 285:690-698.
3. Aldridge K, Kane A, Marsh J, Yan P, Govier D, Richtsmeier J. 2006. Relationship of brain and skull in pre- and postoperative sagittal synostosis. J Anat 206:373-385.
4. Aldridge K, Reeves R, Olson L, Richtsmeier J. 2007. Differential effects of trisomy on brain shape and volume in related aneuploid mouse models. Am J Med Genet Part A 143A:1060-1070.
5. Anderson P, Netherway D, Abbott A, Cox T, Roscioli T, David D. 2004. Analysis of intracranial volume in Apert syndrome genotypes. Pediatr Neurosurg 40:161-164.
6. Bansal R, Lakhina V, Remedios R, Tole S. 2003. Expression of FGF receptors 1, 2, 3 in the embryonic and postnatal mouse brain compared with Pdgfra, Olig2 and Plp/dm20: implications for oligodendrocyte development. Dev Neurosci 25:83-95.
7. Blank C. 1960. Apert's syndrome (a type of acrocephalosyndactyly) - observations on a British series of thirty-nine cases. Ann Hum Genet Lond 24:151-164.
8. Chen L, Li D, Li C, Engel A, Deng C. 2003. A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone 33:169-178.
9. Cohen M. 2000. Apert syndrome. In: Cohen M, MacLean R, editors. Craniosynostosis: diagnosis, evaluation, and management. New York: Oxford University Press. p 316-353.
10. Cohen M, Kreiborg S. 1990. The central nervous system in the Apert syndrome. Am J Med Genet 35:36-45.
11. Cohen M, Kreiborg S. 1991. Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome. Neurosurg Clin N Am 2:565-568.
12. Cohen M, Kreiborg S. 1993. An updated pediatric perspective on the Apert syndrome. Am J Dis Child 147:989-993.
13. Cohen M, Kreiborg S. 1994. Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 14:153-162.
14. Cohen M, MacLean R, editors. 2000. Craniosynostosis: diagnosis, evaluation, and management. New York: Oxford University Press. 454 p.
15. Cohen M, Kreiborg S, Lammer E, Cordero J, Mastroiacovo P, Erickson J, Roeper P, Martinez-Frias M. 1992. Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655-659.
16. Darroch J, Mosimann J. 1985. Canonical and principal components of shape. Biometrika 72:241-252.
17. de Leon G, de Leon G, Grover W, Zaeri N, Alburger P. 1987. Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). Arch Neurol 44:979-982.
18. Eswarakumar V, Monsonego-Ornan E, Pines M, Antonopoulou I, Morriss-Kay G, Lonai P. 2002a. The IIIc alternative of Fgfr2 is a positive regulator of bone formation. Development 129:3783-3793.
19. Eswarakumar VP, Monsonego-Ornan E, Pines M, Antonopoulou I, Morriss-Kay GM, Lonai P. 2002b. The IIIc alternative of Fgfr2 is a positive regulator of bone formation. Development 129:3783-3793.
20. Falsetti A, Jungers W, Cole TR. 1993. Morphometrics of the callitrichid forelimb: a case study in size and shape. Int J Primatol 14:551-572.
21. Frinchi M, Bonomo A, Trovato-Salinaro A, Condorelli D, Fuxe K, Spampinato M, Mudò G. 2008. Fibroblast growth factor-2 and its receptor expression in proliferating precursor cells of the subventricular zone in the adult rat brain. Neurosci Lett 447:20-25.
22. Gagan J, Tholpady S, Ogle R. 2007. Cellular dynamics and tissue interactions of the dura mater during head development. Birth Defects Res C Embryo Today 81:297-304.
23. Gault D, Renier D, Marchac D, Jones B. 1992. Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 90:377-381.
24. Gosain A, McCarthy J, Glatt P, Staffenberg D, Hoffmann R. 1995. A study of intracranial volume in Apert syndrome. Plast Reconstr Surg 95:284-295.
25. Hill CA, Reeves RH, Richtsmeier JT. 2007. Effects of aneuploidy on skull growth in a mouse model of Down syndrome. J Anat 210:394-405.
26. Hughes S. 1997. Differential expression of the fibroblast growth factor receptor (FGFR) multigene family in normal human adult tissues. J Histochem Cytochem 45:1005-1019.
27. Iseki S, Wilkie AO, Morriss-Kay GM. 1999. Fgfr1 and Fgfr2 have distinct differentiation-and proliferation-related roles in the developing mouse skull vault. Development 126:5611-5620.
28. Lajeunie E, Cameron R, El Ghouzzi V, De Parseval N, Journeau P, Gonzales M, Delezoide A-L, Bonaventure J, LeMerrer M, Renier D. 1999. Clinical variability in patients with Apert's syndrome. J Neurosurg 90:443-447.
29. Lefebvre A, Travis F, Arndt E, Munro I. 1986. A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 39:510-513.
30. Lele S, Richtsmeier J. 2001. An invariant approach to the statistical analysis of shapes. London: Chapman and Hall/ CRC Press.
31. Mann H, Whitney D. 1947. On a test of whether one of two random variables is stochastically larger than the other. Ann Math Stat 18:50-60.
32. Maric D, Pla A, Chang Y, Barker J. 2007. Self-renewing and differentiating properties of cortical neural stem cells are selectively regulated by basic fibroblast growth factor (FGF) signaling via specific FGF receptors. J Neurosci 27:1836-1852.
33. Marsh J, Galic M, Vannier M. 1991. Surgical correction of the craniofacial dysmorphology of Apert syndrome. Clin Plast Surg 18:251-275.
34. Moss M. 1979. Functional cranial analysis and the functional matrix. Int J Orthod 17:21-31.
35. Moss M. 1997a. The functional matrix hypothesis revisited. 1. The role of mechanotransduction. Am J Orthod Dentofacial Orthop 12:8-11.
36. Moss M. 1997b. The functional matrix hypothesis revisited. 2. The role of an osseous connected cellular network. Am J Orthod Dentofacial Orthop 112:221-226.
37. Moss M. 1997c. The functional matrix hypothesis revisited. 3. The genomic thesis. Am J Orthod Dentofacial Orthop 112:338-342.
38. Moss M. 1997d. The functional matrix hypothesis revisited. 4. The epigenetic antithesis and the resolving synthesis. Am J Orthod Dentofacial Orthop 112:410-417.
39. Moss M, Young R. 1960. A functional approach to craniology. Am J Phys Anthropol 18:281-202.
40. Noetzel M, Marsh J, Palkes H, Gado M. 1985. Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885-892.
41. Opperman L, Sweeney T, Redmon J, Persing J, Ogle R. 1993. Tissue interactions with underlying dura mater inhibit osseous obliteration of developing cranial sutures. Dev Dyn 198:312-322.
42. Opperman L, Passarelli R, Morgan E, Reintjes M, Ogle R. 1995. Cranial sutures require tissue interactions with dura mater to resist osseous obliteration in vitro. J Bone Miner Res 10:1978-1987.
43. Opperman L, Chhabra A, Nolen A, Bao Y, Ogle R. 1998. Dura mater maintains rat cranial sutures in vitro by regulating suture cell proliferation and collagen production. J Craniofac Genet Dev Biol 18:150-158.
44. Ornitz DM, Itoh N. 2001. Fibroblast growth factors. Genome Biol 2:1-12.
45. Ornitz D, Marie P. 2002. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 16:1445-1465.
46. Parsons T, Ryan T, Reeves R, Richtsmeier J. 2007. Micro-structure of trabecular bone in a mouse model for Down syndrome. Anat Rec 290:414-421.
47. Passos-Bueno M, Sertie A, Jehee F, Fanganiello R, Yeh E. 2008. Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. In: Rice D, editor. Craniofacial sutures. Development, disease and treatment. Basel: Karger. p 107-143.
48. Patton M, Goodship J, Hayward R, Lansdown R. 1988. Intellectual development in Apert's syndrome: a long term follow up of 29 patients. J Med Genet 25:164-167.
49. Pooh R, Nakagawa Y, Pooh K, Nakagawa Y, Nagamachi N. 1999. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. Ultrasound Obstet Gynecol 13:274-280.
50. Posnick J, Armstrong D, Bite U. 1995. Crouzon and Apert syndromes: intracranial volume measurements before and after cranio-orbital reshaping in childhood. Plast Reconstr Surg 96:539-548.
51. Quintero-Rivera F, Robson C, Reiss R, Levine D, Benson C, et al. 2006. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet 140A:1337-1338.
52. Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D. 1996. Prognosis for mental function in Apert's syndrome. J Neurosurg 85:66-72.
53. Renier D, Lajeunie E, Arnaud E, Marchac D. 2000. Management of craniosynostoses. Childs Nerv Syst 16:645-658.
54. Richtsmeier JT, Paik C, Elfert P, Cole T, Dahlman HR. 1995. Precision, repeatability and validation of the localization of cranial landmarks using computed tomogrphay scans. Cleft Palate Craniofac J 32:217-227.
55. Richtsmeier J, Cole Tr, Krovitz G, Valeri C, Lele S. 1998. Preoperative morphology and development in sagittal synostosis. J Craniofac Genet Dev Biol 18:64-78.
56. Richtsmeier J, Aldridge K, DeLeon V, Panchal J, Kane A, Marsh J, Yan P, Cole Tr. 2006. Phenotypic integration of neurocranium and brain. J Exp Zool B Mol Dev Evol 306:360-378.
57. Robb R, Hanson D, Karwoski R, Larson A, Workman E, Stacy M. 1989. ANALYZE: a comprehensive, operator-interactive software package for multidimensional medical image display and analysis. Comput Med Imaging Graph 13:433-454.
58. Slaney S, Oldridge M, Hurst J, Morriss-Kay G, Hall C, Poole M, Wilkie A. 1996. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 58:923-932.
59. Tokumaru A, Barkovich A, Ciricillo S, Edwards M. 1996. Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes. AJNR Am J Neuroradiol 17:619-630.
60. Tolarova M, Harris J, Ordway D, Vargervik K. 1997. Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. Am J Med Genet 72:394-398.
61. Wang Y, Xiao R, Yang F, Karim B, Iocovelli A, Cai J, Lerner C, Richtsmeier J, Leszl J, Hill C, Yu K, Ornitz D, Elisseeff J, Huso D, Jabs E. 2005. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 132:3537-3548.
62. Wang Y, Sun M, Uhlhorn V, Peter I, Hill C, Percival C, Richtsmeier J, Huso D, Jabs E. (in press). Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+/P253R mice. BMC Dev Biol.
63. Wang H, Owens JD, Shih JH, Li MC, Bonner RF, Mushinski JF. 2006. Histological staining methods preparatory to laser capture microdissection significantly affect the integrity of the cellular RNA. BMC Genomics 7:97.
64. Wilke T, Gubbels S, Schwartz J, Richman J. 1997. Expression of fibroblast growth factor receptors (FGFR1, FGFR2, FGFR3) in the developing head and face. Dev Dyn 210:41-52.
65. Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra R, Zanini S, et al. 2004. Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment. AJNR J Neuroradiol 31:116-122.
66. Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra R, Zanini S, et al. 2005. Apert syndrome: factors involved in the cognitive development. Arq Neuropsiquiatr 63:963-968.
67. Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L. 2008. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone 42:631-643.