Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta

American Journal of Otology

Volumn 19, Issue 5, 1998, Pages 604-610

  McKenna, Michael J ^a,b   Kristiansen, Arthur G ^b,c   Bartley, Mary L ^b   Rogus, John J ^d   Haines, Jonathan L ^a,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Association; Collagen; Gene; Osteogenesis imperfecta; Otosclerosis

Indexed keywords

COLLAGEN TYPE 1; DNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; OSTEOGENESIS IMPERFECTA; OTOSCLEROSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; HAPLOTYPES; HUMANS; OSTEOGENESIS IMPERFECTA; OTOSCLEROSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0031689819     PISSN: 01929763     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Nager GT. Histopathology of otosclerosis. Arch Otolaryngol 1969;89:341-63.
2. Lindsay JR. Histopathology of otosclerosis. Arch Otolaryngol 1973;97:24-9.
3. McKenna MJ, Mills BG, Galey FR, et al. Filamentous structures morphologically similar to viral nucleocapsids in otosclerotic lesions in two patients. Am J Otol 1986;7:25-8.
4. McKenna MJ, Gadre AK, Rask-Andersen H. Ultrastructural characterization of otospongiotic lesions in re-embedded celloidin sections. Acta Otolaryngol (Stockh) 1990;109:397-405.
5. Weber M. Otosklerose und umbau der labyrinthkapsel. Leipzig: Offizin Poeschel und Trepte, 1935.
6. Engström H. Über das Vorkommen der Otosklerose nebst experimentellen Studien über chirurgische Behandlung der Krankheit. Acta Otolaryngol (Stockh) 1940;(Suppl)43:1-153.
7. Guild SR. Histologic otosclerosis. Ann Otol Rhinol Laryngol 1944;53:246-66.
8. Pearson RD, Kurland LT, Cody DTR. Incidence of diagnosed clinical otosclerosis. Arch Otolaryngol 1974;99:288-91.
9. Hammerschlag V. Zur Frage der Vererbbarkeit der Otosklerose. Wien Klin Rdsch 1905;19:5-7.
10. Albrecht W. Über die Vererbung der konstitutionell sporadischen Taubstummheit der hereditären Labyrinthschwerhörigkeit und der Otosklerose. Arch Ohr Nas Kehlkopfheilk 1923;110:15-48.
11. Fowler EP. Otosclerosis in identical twins. A study of 40 pairs. Arch Otolaryngol 1966;83:324-8.
12. Larsson A. Otosclerosis: a genetic and clinical study. Acta Otolaryngol (Stockh) 1960;(Suppl)154:1-86.
13. Morrison AW. Genetic factors in otosclerosis. Ann R Coll Surg Engl 1967;41:202-37.
14. Gapany-Gapanaviscius B. Otosclerosis: genetics and surgical rehabilitation. Jerusalem: Keter, 1975.
15. Donnell GN, Alfi OS. Medical genetics for the otolaryngologist. Laryngoscope 1980;90:40-6.
16. Causse JR, Causse JB. Otospongiosis as a genetic disease. Early detection, medical management, and prevention. Am J Otol 1984;5:211-23.
17. Ben Arab S, Bonaïti-Pellié C, Belkahia A. A genetic study of otosclerosis in a population living in the north of Tunisia. Ann Genet 1993;36:111-6.
18. Nager FR. Zur Klinik und pathologischen Anatomie der Otosklerose. Acta Otolaryngol (Stockh) 1939;27:542-51.
19. Shambaugh GE Jr. Fenestration operation for otosclerosis. Experimental investigations and clinical observations in 2,100 operations over a period of ten years. Acta Otolaryngol (Stockh) 1949; (Suppl)79:1-101.
20. Cawthorne T. Otosclerosis. J Laryngol Otol 1955;69:437-56.
21. Knowlton RG, Katzenstein PL, Moskowitz RW, et al. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chrondrodysplasia. N Engl J Med 1990;322:526-30.
22. Anderson MA, Gusella JF. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 1984;20:856-8.
23. von Deimling A, Bender B, Louis DN, et al. A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas. Neuropathol Appl Neurobiol 1993;19:524-9.
24. Dausset J, Cann H, Cohen D, et al. Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics 1990;6:575-7.
25. Terwilliger JD. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 1995;56:777-87.
26. Bergstrom L-V. Fragile bones and fragile ears. Clin Orthop 1981;159:58-63.
27. Balle VH, Bretlau P, Hainau B. Collagen fibres in otosclerosis and in osteogenesis imperfecta tarda: a light and electron microscopic study. Acta Otolaryngol (Stockh) 1984;98:413-7.
28. Pedersen U, SasOgaard H, ElbrasOnd O. Histological investigation of skin biopsies in otosclerosis and osteogenesis imperfecta. Arch Otorhinolaryngol 1984;240:1-6.
29. Wenstrup RJ, Willing MC, Starman BJ, et al. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46:975-82.
30. Willing MC, Deschenes SP, Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55:638-47.
31. Redford-Badwal DA, Stover ML, Valli M, et al. Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. J Clin Invest 1996;97:1035-40.
32. Willing MC, Deschenes SP, Slayton RL, et al. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. Am J Hum Genet 1996;59:799-809.
33. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
34. Fowler EP. The incidence (and degrees) of blue sclerae in otosclerosis and other ear disorders. Laryngoscope 1949;59:406.
35. Sykes B, Ogilvie D, Wordsworth P, et al. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet 1990;46:293-307.
36. Schuknecht HF. Pathology of the ear. Cambridge, Massachusetts: Harvard University Press, 1974.
37. Nager GT. Osteogenesis imperfecta of the temporal bone and its relation to otosclerosis. Ann Otol Rhinol Laryngol 1988;97:585-93.
38. Ribari O, Pereplica M, Sziklai I. Oversulfated mucopolysaccharides in the otosclerotic bone. Acta Otolaryngol (Stockh) 1991;111:362-5.
39. Fedarko NS, Robey PG, Vetter UK. Extracellular matrix stoichiometry in osteoblasts from patients with osteogenesis imperfecta. J Bone Miner Res 1995;10:1122-9.
40. Ye S-N, Yi Z-X, Wang P-Y, et al. The role and significance of chondroitin sulfate in the development of otosclerosis. Laryngoscope 1995;105:1005-9.
41. Gebb C, Hayman EG, Engvall E, et al. Interaction of vitronectin with collagen. J Biol Chem 1986;261:16698-703.
42. Ingham KC, Brew SA, Isaacs BS. Interaction of fibronectin and its gelatin-binding domains with fluorescent-labeled chains of type I collagen. J Biol Chem 1988;263:4624-8.
43. Brown DC, Vogel KG. Characteristics of the in vitro interaction of a small proteoglycan (PG II) of bovine tendon with type I collagen. Matrix 1989;9:468-78.
44. Pringle GA, Dodd CM. Immunoelectron microscopic localization of the core protein of decorin near the d and e bands of tendon collagen fibrils by use of monoclonal antibodies. J Histochem Cytochem 1990;38:1405-11.
45. McKenna MJ, Mills BG. Immunohistochemical evidence of measles virus antigens in active otosclerosis. Otolaryngol Head Neck Surg 1989;101:415-21.
46. McKenna MJ, Adams JC. Immunohistochemical demonstration of measles fusion and phosphor protein antigens in active otosclerosis. In: McCabe BF, Veldman JE, Mogi G, eds. Immunobiology in otology, rhinology and laryngology. Amsterdam, The Netherlands: Kugler Publications, 1992:101-7.
47. McKenna MJ, Kristiansen AG, Haines J. Polymerase chain reaction amplification of a measles virus sequence from human temporal bone sections with active otosclerosis. Am J Otol 1996;17:827-30.
48. Niedermeyer HP, Arnold W. Otosclerosis: a measles virus associated inflammatory disease. Acta Otolaryngol (Stockh) 1995;115:300-3.
49. Schneider-Schaulies S, Liebert UG, Baczko K, et al. Restricted expression of measles virus in primary rat astroglial cells. Virology 1990;177:802-6.
50. Yamabe T, Dhir G, Cowan EP, et al. Cytokine-gene expression in measles-infected adult human glial cells. J Neuroimmunol 1994;49: 171-9.
51. Schneider-Schaulies J, Schneider-Schaulies S, ter Meulen V. Differential induction of cytokines by primary and persistent measles virus infections in human glial cells. Virology 1993;195:219-28.
52. Schultz-Cherry S, Hinshaw VS. Influenza virus neuraminidase activates latent transforming growth factor β. J Virol 1996;70: 8624-9.
53. Iruela-Arispe ML, Vernon RB, Wu H, et al. Type I collagen-deficient Mov-13 mice do not retain SPARC in the extracellular matrix: implications for fibroblast function. Dev Dyn 1996;207: 171-83.