Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 208-211

  Li, Chunmei ^a,b   Kosmorsky, Gregory ^c   Zhang, Kang ^a   Katz, Bradley J ^a   Ge, Jian ^b   Traboulsi, Elias I ^c,d  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b SUN YAT SEN UNIVERSITY   (China)

^c LERNER RESEARCH INSTITUTE   (United States)

^d University of Utah ^*  (United States)

Author keywords

Deafness; Dynamin; Mitochondria; OPA1; Optic atrophy

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL ARTICLE; DISABILITY; EYE MOVEMENT DISORDER; FEMALE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; MALE; OPA1 GENE; OPHTHALMOPLEGIA; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PTOSIS; SCHOOL CHILD; VISUAL IMPAIRMENT;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; CHILD; FEMALE; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HEARING TESTS; HISTIDINE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT;

EID: 25644432134     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30794     Document Type: Article

References (27)

1. Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiery Y, Reynier P, Bonneau D. 2003. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 136:1170-1171.
2. Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthiery Y, Hamel C, Reynier P. 2003. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two do novo mutations in sporadic optic atrophy. Hum Mutat 21:656.
3. Barrett TG, Bundey SE, Fielder AR, Good PA. 1997. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 11(Pt 6):882-888.
4. Chinnery PF, Griffiths PG. 2005. Optic mitochondriopathies. Neurology 64:940-941.
5. Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. 2000. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207-210.
6. Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. 2001. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 109:584-591.
7. Eliott D, Traboulsi EI, Maumenee IH. 1993. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol 115:360-367.
8. Gustavson KH, Anneren G, Malmgren H, Dahl N, Ljunggren CG, Backman H. 1993. New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. Am J Med Genet 45:654-658.
9. Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM. 1989. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet 33:61-65.
10. Hoyt CS. 1980. Autosomal dominant optic atrophy. A spectrum of disability. Ophthalmology 87:245-251.
11. Kjer B, Eiberg H, Kjer P, Rosenberg T. 1996. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 74:3-7.
12. Meire F, De Laey JJ, de Bie S, van Staey M, Matton MT. 1985. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic Paediatr Genet 5:91-97.
13. Newman NJ. 2002. From genotype to phenotype in Leber hereditary optic neuropathy: Still more questions than answers. J Neuroophthalmol 22:257-261.
14. Okamoto PM, Tripet B, Litowski J, Hodges RS, Vallee RB. 1999. Multiple distinct coiled-coils are involved in dynamin self-assembly. J Biol Chem 274:10277-10286.
15. Olichon A, Baricault L, Gas N, Guillou E, Valette A, Belenguer P, Lenaers G. 2003. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 278:7743-7746.
16. Ozden S, Duzcan F, Wollnik B, Cetin OG, Sahiner T, Bayramoglu I, Yuksel-Apak M, Bagci H. 2002. Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ophthalmic Genet 23:29-36.
17. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. 2004. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138:749-755.
18. Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B. 2001. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10:1359-1368.
19. Pesch UE, Fries JE, Bette S, Kalbacher H, Wissinger B, Alexander C, Kohler K. 2004. OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Vis Sci 45:4217-4225.
20. Rosenberg RN, Chutorian A. 1967. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 17:827-832.
21. Shaw JM, Nunnari J. 2002. Mitochondrial dynamics and division in budding yeast. Trends Cell Biol 12:178-184.
22. Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N. 2003. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol 135:256-257.
23. Smirnova E, Shurland DL, Newman-Smith ED, Pishvaee B, van der Bliek AM. 1999. A model for dynamin self-assembly based on binding between three different protein domains. J Biol Chem 274:14942-14947.
24. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. 1998. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7:2021-2028.
25. Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. 2001. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet 10:1369-1378.
26. Treft RL, Sanborn GE, Carey J, Swartz M, Crisp D, Wester DC, Creel D. 1984. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Ophthalmology 91:908-915.
27. Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K. 2005. Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet 14:255-265.