Mitochondrial syndromic sensorineural hearing loss

Bioscience Reports

Volumn 27, Issue 1-3, 2007, Pages 113-123

  Forli, F ^a   Passetti, S ^a   Mancuso, M ^a   Seccia, V ^a   Siciliano, G ^a   Nesti, C ^a   Berrettini, S ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

Cochlea; Mitochondrial hearing loss; Sensorineural hearing loss; Syndromic hearing loss

Indexed keywords

ADULT; AGED; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE MUTATION; HUMAN; INCIDENCE; MALE; MITOCHONDRIAL GENETICS; MITOCHONDRIAL RESPIRATION; NEUROMUSCULAR DISEASE; PERCEPTION DEAFNESS; SYMPTOM;

ADULT; AGED; AUDIOMETRY, PURE-TONE; COCHLEA; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION;

EID: 34250657003     PISSN: 01448463     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10540-007-9040-5     Document Type: Conference Paper

References (32)

1. Berrettini S, Ravecca F, Forli F, Sellari-Franceschini S, Piragine F (1998) Approccio diagnostico e terapeutico alle ipoacusie neurosensoriali progressive. Acta Otorhinolaryngol Ital 4(Suppl 59):87-94
2. Berrettini S, Forli F, Siciliano G, Mancuso M (2001) Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion. J Laryngol Otol 115:128-131
3. Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ (2004) Clinical features of A3243G mitochondrial tRNA mutation. Brain Dev 26:459-462
4. Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD (2000) The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123:82-92
5. Corley VM, Crabbe LS (1999) Auditory neuropathy and a mitochondrial disorder in a child: case study. J Am Acad Audiol 10:484-488
6. Counter PR, Hilton MP, Webster D, Wardell T, Taylor RW, Besley G, Turnbull DM, Robinson PJ (2001) Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. J Laryngol Otol 115:730-732
7. Cullington HE (1999) Cochlear implantation of a deaf blind patient with mitochondrial cytopathy. J Laryngol Otol 113:353-354
8. Damian MS, Seibel P, Reichmann H, Schachenmayr W, Laube H, Bachmann G, Wassill KH, Dorndorf W (1995) Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 92:409-415
9. Deltenre P, Mansbach AL, Bozet C, Clercx A, Hecox KE (1997) Auditory neuropathy: a report on three cases with early onsets and major neonatal illnesses. Electroencephalogr Clin Neurophysiol 104:17-22
10. Deschauer M, Muller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S (2001) Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch Neurol 58:1885-1888
11. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668
12. Elverland HH, Torbergsden T (1991) Audiologic findings in a family with mitochondrial disorder. Am J Otol 12:459-465
13. Fischel-Ghodsian N (2003) Mitochondrial hearing impairment. Audiol Med 1:55-66
14. Fischel-Ghodsian N, Prezant TR, Fournier P, Steward IA, Maw M (1995) Mitochondrial mutation associated with non-syndromic deafness. Am J Otol 16:403-408
15. Forli F, Mancuso M, Santoro A, Dotti MT, Siciliano G, Berrettini S (2006) Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions. J Laryngol Otol 120:888-891
16. Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, Bertin E, Blickle JF, Bouhanick B, Cahen J, Caillat-Zucman S, Charpentier G, Chedin P, Derrien C, Ducluzeau PH, Grimaldi A, Guerci B, Kaloustian E, Murat A, Olivier F, Paques M, Paquis-Flucklinger V, Porokhov B, Samuel-Lajeunesse J, Vialettes B (2001) Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134:721-728
17. Hill D, Wintersgill S, Stott L, Cadge B, Graham J (2001) Cochlear implantation in a profoundly deaf patient with MELAS syndrome. J Neurol Neurosurg Psychiatr 71:281
18. Karkos PD, Waldron M, Johnson IJ (2004) The MELAS syndrome. Review of the literature: the role of the otologist. Clin Otolaryngol 29:1-4
19. Korres S, Balatsouras D, Manta P, Economou C, Yiotakis I, Adamopoulos G (2002) Cochlear dysfunction in patients with mitochondrial myopathy. ORL J Otorhinolaryngol Relat Spec 64:315-320
20. Mancuso M, Filosto M, Forli F, Rocchi A, Berrettini S, Siciliano G, Murri L (2004) A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation. Acta Neurol Scand 110:72-74
21. Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A (2000) Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, amynoglicoside induced deafness, pigmentary disturbances and spinal anomalies. Teratology 61:165-171
22. Oshima T, Ueda N, Ikeda K, Abe K, Takasaka T (1999) Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan. Laryngoscope 109:334-338
23. Raut V, Sinnathuray AR, Toner JG (2002) Cochlear implantation in maternal inherited diabetes and deafness syndrome. J Laryngol Otol 116:373-375
24. Reid FM, Vernham GA, Jacobs HT (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243-247
25. Rosenthal EL, Kileny PR, Boerst A, Telian SA (1999) Successful cochlear implantation in a patient with MELAS syndrome. Am J Otol 20:187-190
26. Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, Mancini DM, DiMauro S, Hirano M (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 64:295-300
27. Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 13:179-185
28. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI (1996) Auditory neuropathy. Brain 119:741-753
29. Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Gibson WP, Byrne E, Morris JG (1998) Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 43:350-359
30. Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNAser (UCN) gene. Hum Mol Genet 4:1421-1427
31. Tsutsumi T, Nishida H, Noguchi Y, Komatsuzaki A, Kitamura K (2001) Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres. J Laryngol Otol 115:777-781
32. Zwirner P, Wilichowski E (2001) Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 111:515-521