Facial dysostoses: Etiology, pathogenesis and management

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

Volumn 163, Issue 4, 2013, Pages 283-294

  Trainor, Paul A ^a   Andrews, Brian T ^b  

^a STOWERS INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b NONE

Author keywords

Acrofacial dysotosis; Facial dysostosis; Mandibulofacial dysostosis; Miller syndrome; Nager syndrome; Neural crest cells; Ribosome biogenesis; Spliceosome; Treacher Collins syndrome

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; DIHYDROOROTATE DEHYDROGENASE; DNA DIRECTED RNA POLYMERASE; DNA DIRECTED RNA POLYMERASE III; GUANOSINE TRIPHOSPHATASE;

AIRWAY OBSTRUCTION; ARTICLE; AUDITORY OSSICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BONE ANCHORED HEARING AID; CELL DIFFERENTIATION; CHOANA ATRESIA; CHROMOSOME 5; CLINICAL FEATURE; COLOBOMA; CONDUCTION DEAFNESS; CONGENITAL MALFORMATION; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MALFORMATION; DISTRACTION OSTEOGENESIS; DYSOSTOSIS; EMBRYO DEVELOPMENT; EYELID RECONSTRUCTION; FACIAL DYSOSTOSIS; GENETIC HETEROGENEITY; HAPLOINSUFFICIENCY; HUMAN; INFANT MORTALITY; INTELLECTUAL IMPAIRMENT; LIMB DEVELOPMENT; LIVE BIRTH; MALOCCLUSION; MANDIBLE HYPOPLASIA; MANDIBLE OSTEOTOMY; MANDIBLE RECONSTRUCTION; MANDIBULAR NERVE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MICROGNATHIA; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NAGER ACROFACIAL DYSOSTOSIS; NEURAL CREST CELL; NONHUMAN; NONSENSE MUTATION; OSTEOTOMY; PALPEBRAL FISSURE; PENETRANCE; PLASTIC SURGERY; PRIORITY JOURNAL; RNA SPLICING; SPEECH REHABILITATION; SPLICEOSOME; TRACHEOSTOMY; UPPER RESPIRATORY TRACT OBSTRUCTION; ABNORMALITIES, MULTIPLE; CHROMOSOME 11; CHROMOSOME DELETION; GENETICS; LIMB DEFORMITIES, CONGENITAL; MICROGNATHISM; PATHOLOGY; WAGR SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; HUMANS; LIMB DEFORMITIES, CONGENITAL; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHISM; WAGR SYNDROME;

EID: 84886241875     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31375     Document Type: Article

References (71)

1. Andrews BT, Fan KL, Roostaeian J, Federico C, Bradley JP. 2013. Incidence of concomitant airway anomalies when using the University of California, Los Angeles, protocol for neonatal mandibular distraction. Plast Reconstr Surg 131:1116-1123.
2. Aylsworth AS, Lin AE, Friedman PA. 1991. Nager acrofacial dysostosis: Male-to-male transmission in 2 families. Am J Med Genet 41:83-88.
3. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS, 2012. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90:925-933.
4. Champion-Arnaud P, Reed R. 1994. The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. Genes Dev 8:1974-1983.
5. Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D. 1988. Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 25:230-232.
6. Chong DK, Murray DJ, Britto JA, Tompson B, Forrest CR, Phillips JH. 2008. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. Plast Reconstr Surg 121:74e-77e.
7. Cohen J, Ghezzi F, Goncalves L, Fuentes JD, Paulyson KJ, Sherer DM. 1995. Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. Am J Perinatol 12:416-419.
8. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. 2013. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet 132:885-898.
9. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. 2011. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 43:20-22.
10. Dixon J, Dixon MJ. 2004. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dev Dyn 229:907-914.
11. Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW. 1994. Treacher Collins syndrome: Correlation between clinical and genetic linkage studies. Clin Dysmorphol 3:96-103.
12. Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. 2006. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci USA 103:13403-13408.
13. Dixon J, Trainor P, Dixon MJ. 2007. Treacher Collins syndrome. Orthod Craniofac Res 10:88-95.
14. Duan X, Kelsen SG, Clarkson AB Jr, Ji R, Merali S. 2010. SILAC analysis of oxidative stress-mediated proteins in human pneumocytes: New role for treacle. Proteomics 10:2165-2174.
15. Edwards SJ, Fowlie A, Cust MP, Liu DT, Young ID, Dixon MJ. 1996. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet 33:603-606.
16. Edwards SJ, Gladwin AJ, Dixon MJ. 1997. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 60:515-524.
17. Fang J, Uchiumi T, Yagi M, Matsumoto S, Amamoto R, Saito T, Takazaki S, Kanki T, Yamaza H, Nonaka K, Kang D. 2012. Protein instability and functional defects caused by mutations of dihydro- orotate dehydrogenase in Miller syndrome patients. Biosci Rep 32:631-639.
18. Franceschetti A, Klein D. 1949. The mandibulofacial dysostosis; a new hereditary syndrome. Acta Ophthalmol (Copenh) 27:143-224.
19. Genee E. 1969. An extensive form of mandibulo-facial dysostosis. J Genet Hum 17:45-52.
20. Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ. 1996. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 5:1533-1538.
21. Gorlin RJ, Cohen MM, Levin LS. 1990. Syndromes of the head and neck. Oxford, UK: Oxford University Press.
22. Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith A Jr. 2006. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol 15:171-174.
23. Hail N Jr, Chen P, Kepa JJ, Bushman LR, Shearn C. 2010. Dihydroorotate dehydrogenase is required for N-(4-hydroxyphenyl)retinamide-induced reactive oxygen species production and apoptosis. Free Radic Biol Med 49:109-116.
24. Halal F, Herrmann J, Pallister PD, Opitz JM, Desgranges MF, Grenier G. 1983. Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet 14:209-224.
25. Hall BD. 1989. Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. Am J Med Genet 33:394-397.
26. Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT. 2000. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 11:3061-3071.
27. Jackson IT. 1981. Reconstruction of the lower eyelid defect in Treacher Collins syndrome. Plast Reconstr Surg 67:365-368.
28. Jahrsdoerfer R. 1980. Congenital malformations of the ear. Analysis of 94 operations. Ann Otol Rhinol Laryngol 89:348-352.
29. Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, Dixon MJ, Trainor PA. 2008. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 14:125-133.
30. Kennedy SJ, Teebi AS. 2004. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Am J Med Genet Part A 129A:73-76.
31. Kumar A, Bradley JP. 2008. Treacher-Collins syndrome. New York: Informa Healthcare.
32. Le Merrer M, Cikuli M, Ribier J, Briard ML. 1989. Acrofacial dysostoses. Am J Med Genet 33:318-322.
33. Lindstrom MS, Deisenroth C, Zhang Y. 2007. Putting a finger on growth surveillance: Insight into MDM2 zinc finger-ribosomal protein interactions. Cell Cycle 6:434-437.
34. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM, 2012. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 90:369-377.
35. Liu YH, Tang Z, Kundu RK, Wu L, Luo W, Zhu D, Sangiorgi F, Snead ML, Maxson RE. 1999. Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: A possible mechanism for MSX2-mediated craniosynostosis in humans. Dev Biol 205:260-274.
36. Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. 2013. " Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype. Am J Med Genet Part A 161A:108-113.
37. Marres HA, Cremers CW, Dixon MJ, Huygen PL, Joosten FB. 1995. The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 121:509-514.
38. Marsella P, Scorpecci A, Pacifico C, Tieri L. 2011. Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: Tips and pitfalls. Int J Pediatr Otorhinolaryngol 75:1308-1312.
39. McCarthy JG, Schreiber J, Karp N, Thorne CH, Grayson BH. 1992. Lengthening the human mandible by gradual distraction. Plast Reconstr Surg 89:1-8, discussion 9-10.
40. McDonald MT, Gorski JL. 1993. Nager acrofacial dysostosis. J Med Genet 30:779-782.
41. Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr. 2006. Cell mixing at a neural crest-mesoderm boundary and deficient Ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet 15:1319-1328.
42. Meurman Y. 1957. Congenital microtia and meatal atresia; observations and aspects of treatment. AMA Arch Otolaryngol 66:443-463.
43. Miller M, Fineman R, Smith DW. 1979. Postaxial acrofacial dysostosis syndrome. J Pediatr 95:970-975.
44. Milligan DA, Harlass FE, Duff P, Kopelman JN. 1994. Recurrence of Treacher Collins' syndrome with sonographic findings. Mil Med 159:250-252.
45. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Bamshad MJ, Shendure J. 2010. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30-35.
46. Noden DM, Trainor PA. 2005. Relations and interactions between cranial mesoderm and neural crest populations. J Anat 207:575-601.
47. Opitz JM. 1987. Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genee and Wiedemann. Am J Med Genet 27:959-963.
48. Phelps PD, Poswillo D, Lloyd GA. 1981. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin Otolaryngol 6:15-28.
49. Poswillo D. 1975. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg 13:1-26.
50. Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR. 2012. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet 21:3969-3983.
51. Robert B. 2007. Bone morphogenetic protein signaling in limb outgrowth and patterning. Dev Growth Differ 49:455-468.
52. Rogers GF, Murthy AS, LaBrie RA, Mulliken JB. 2011. The GILLS score: Part I. Patient selection for tongue-lip adhesion in Robin sequence. Plast Reconstr Surg 128:243-251.
53. Rubbi CP, Milner J. 2003. Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses. EMBO J 22:6068-6077.
54. Ruiz-Lozano P, Doevendans P, Brown A, Gruber PJ, Chien KR. 1997. Developmental expression of the murine spliceosome-associated protein mSAP49. Dev Dyn 208:482-490.
55. Sakai D, Dixon J, Dixon MJ, Trainor PA. 2012. Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells. PLoS Genet 8:e1002566.
56. Schlieve T, Almusa M, Miloro M, Kolokythas A. 2012. Temporomandibular joint replacement for ankylosis correction in Nager syndrome: Case report and review of the literature. J Oral Maxillofac Surg 70:616-625.
57. Shukowski WP. 1911. Zur atiologie des stridor inspiratorius congenitus. Jahrb Kinderheilk 73:459-474.
58. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. 2000. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 16:315-322.
59. Stovin JJ, Lyon JA Jr, Clemmens RL. 1960. Mandibulofacial dysostosis. Radiology 74:225-231.
60. Tanzer RC. 1959. Total reconstruction of the external ear. Plast Reconstr Surg Transplant Bull 23:1-15.
61. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. 2004. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 12:879-890.
62. Tessier P. 1982. Autogenous bone grafts taken from the calvarium for facial and cranial applications. Clin Plast Surg 9:531-538.
63. Treacher Collins E. 1900. Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Opthalmol Soc UK 20:90.
64. Treacher Collins Syndrome Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
65. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. 2004. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci USA 101:10709-10714.
66. Waggoner DJ, Ciske DJ, Dowton SB, Watson MS. 1999. Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet 82:301-304.
67. Walker M, Trainor PA. 2006. Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes. Clin Genet 69:471-479.
68. Watanabe H, Shionyu M, Kimura T, Kimata K, Watanabe H. 2007. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. J Biol Chem 282:20728-20738.
69. White RM, Cech J, Ratanasirintrawoot S, Lin CY, Rahl PB, Burke CJ, Langdon E, Tomlinson ML, Mosher J, Kaufman C, Chen F, Long HK, Kramer M, Datta S, Neuberg D, Granter S, Young RA, Morrison S, Wheeler GN, Zon LI. 2011. DHODH modulates transcriptional elongation in the neural crest and melanoma. Nature 471:518-522.
70. Wiedemann HR. 1973. Malformation-retardation syndrome with bilateral absence of the 5th rays in both hands and feets, cleft palate, malformed ears and eyelids, radioulnar synostosis (author's transl). Klin Padiatr 185:181-186.
71. Zenk J, Fyrmpas G, Zimmermann T, Koch M, Constantinidis J, Iro H. 2009. Tracheostomy in young patients: Indications and long-term outcome. Eur Arch Otorhinolaryngol 266:705-711.