Neurosensory hearing loss in secondary adhalinopathy

Neuropediatrics

Volumn 27, Issue 1, 1996, Pages 32-36

  Oexle, K ^a   Herrmann, R ^b   Dodé, Catherine ^c   Leturcq, F ^c   Hubner Ch ^a   Kaplan, J C ^c   Mizuno, Y ^d   Ozawa, E ^d   Campbell, K P ^e   Voit, T ^b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c Univ René Descartes ^*  (France)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

Adhalin; Chromosome 13q12; Dystrophin; Limb girdle muscular dystrophy (LGMD); Non syndromic recessive deafness (NSRD)

Indexed keywords

ADHALIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 13Q; FEMALE; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCULAR DYSTROPHY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

EID: 9044254118     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973744     Document Type: Article

References (39)

1. Allamand, V., F. Leturcq, F. Piccolo, M. Jeanpierre, K. Azibi, S. L. Roberds et al: Adhalin gene polymorphism. Hum. Mol. Genet. 3 (1994) 2269
2. Allen, N. R.: Hearing acuity in patients with muscular dystrophy. Dev Med. Child Neurol 15 (1973) 500-505
3. Anniko, M., W. Arnold, T. Stigbrand, A. Ström: The human spiral ganglion. ORL J. Otorhinolaryngol. Relat. Spec 57 (1995) 68-77
4. Azibi, K., L. Bachner, J. S. Beckmann, K. Matsumura, E. Hamouda, M. Chaouch et al: Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotem maps to chromosome 13q12. Hum. Mol. Genet. 2 (1993) 1423-1428
5. Ben Othmane, K., M. Ben Hamida, M. A. Pericak-Vance, C. Ben Hamida, S. Blel, S. C. Carter et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 2 (1992) 315-317
6. Brouwer, O. F., G. W. Padberg, C. Wijmenga, R. R. Frants: Faciosca-pulohumeral muscular dystrophy in early childhood. Arch Neurol. 51 (1994) 387-394
7. Bushby, K., J. S. Beckmann: Report on the 30th and 31st ENMC International Workshops on the limb-girdle muscular dystrophies. proposal for a new nomenclature. Nenromusc. Disord. 5 (1995) 337-343
8. Campbell, K. P., S. D. Kahl: Association of dystrophin and an integral membrane glycoprotein. Nature 338 (1989) 259-262
9. Chaib, H., G. Lina-Granade, P. Guilford, H. Plauchu, J. Levilliers. A. Morgon, C. Petit: A gene responsible for a dominant form of neurosensory nonsyndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Moi. Genet. 3 (1994) 2219-2222
10. Drenckhahn, D., K. Engel, D. Höfer, C. Merte, L. Tilney, M. Tilney: Three different actin filament assemblies occur in every hair cell: Each contains a specific actin crosslinking protein. J. Cell Biol. 112 (1991) 641-651
11. Ervasti, J. M., K. Ohlendieck, S. D. Kahl, M. G. Gaver, K. P. Campbell: Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345 (1990) 315-319
12. Ervasti, J. M., K. P. Campbell: A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin J. Cell Biol. 122 (1993) 809-823
13. Guilford, P., S. Ben Arab, S. Blanchard, J. Levilliers, J. Weissenbach, A. Belkahia, C. Petit: A non-syndromic form of neurosensory, recessive deafness maps to the pencentromeric region of chromosome 13q. Nature Genet. 6 (1994) 24-28
14. Guilford, P., C. Dodé, F. Crozet, S. Blanchard, H. Chaib, J. Levilliers et al: A YAC contig and an EST map in the pericentrometric region of chromosome 13 surrounding the loci for neurosensory non-syndromic deafness (DNFB1 and DFNA3) and the limb-girdle muscular dystrophy type 2C (LGMD 2C). Genomics (1995) (in press)
15. Gyapay, G., J. Morissette, A. Vignal, C. Dib, C. Fizames, P. Millasseau et al: The 1993-94 Généthon human genetic linkage map. Nature Genet. 7 (1994) 246-339
16. Hirano, M., E. Ricci, R. Koenigsberger, R. Defendini, S. G. Pavlakis, D. C. DeVivo et al: MELAS: an original case and clinical criteria for diagnosis. Neuromusc. Disord. 2 (1992) 125-135
17. Hoffman, E. P., R. H. Jr Brown, L. M. Kunkel: Dystrophin. the protein product of the Duchenne muscular dystrophy locus Cell 51 (1987) 919-928
18. Hudson, T. J., M. Engelstein, M. K. Lee, E. C. Ho, M. J. Rubenfield, C. P. Adams et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13 (1992) 622-629
19. Koenig, M., A. P. Monaco, L. M. Kunkel: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53 (1988) 219-228
20. Lalwani, A. K., J. R. Brister, J. Fex, K. M. Grundfast, A. T. Pikus, B. Ploplis et al: A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21 2 Am J Hum. Genet. 55 (1994) 685-694
21. Leon, P. E., H. Raventos, E. Lynch, J. Morrow, M.-C. King: The gene for an inherited form of deafness maps to chromosome 5q31. Proc. Natl. Acad. Sci U.S.A. 89 (1992) 5181-5184
22. Matsumura, K., F. M. S. Tomé, H. Collin, K. Azibi, M. Chaouch, J.-C. Kaplan et al: Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359 (1992) 320-322
23. Matsumura, K., K. P. Campbell: Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 17 (1994) 2-15
24. Mizuno, Y., S. Nogushi, H. Yamamoto, M. Yoshida, A. Suzuki, Y. Hagiwara et al: Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem. Biophys Res. Commun. 203 (1994) 979-983
25. Nishizaki, K., S.-I. Usami, M. Anniko, W. Arnold: Comparative cytoskeletal analyses of the inner ear in man and the squirrel monkey. ORL J. Otorhinolaryngol. Relat Spec. 57 (1995) 87-93
26. Petrukhin, K. E., M. C. Speer, E. Cayanis, M. Bonaldo, U. Tantravahi, M. B. Soares et al: A microsatellite genetic linkage map of human chromosome 13 Genomics 15 (1993) 76-85
27. Piccolo, F, S. L. Roberds, M. Jeanpierre, F. Leturcq, K. Azibi, C. Beldjord et al: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genet. 10 (1995) 243-245
28. Pillers, D. M., D. E Bulman, R. G. Weleber, D. A. Sigesmund, M. A. Musarella, B. R. Powell et al. Dystrophin expression in the human retina is required for normal function as defined by clectroretinography. Nature Genet. 4 (1993) 82-86
29. Roberds, S. L., R. D. Anderson, O. Ibraghimov-Bnskrovnaya, K. P. Campbell: Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J. Biol. Chem 268 (1993) 23739-23742
30. Roberds, S. L., F. Leturcq, V. Allamand, F. Piccolo, M. Jeanpierre, R. D. Anderson et al: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy Cell 78 (1994) 625-633
31. Slepecky, N. B., M. Ulfendahl: Actin-binding and microtubule-associated proteins in the organ of Corti. Hear Res 57 (1992) 201-215
32. Verhagen, W. I. M., J. P. ter Bruggen, P. L. M. Huygen: Oculomotor, auditory, and vestibular responses in myotonic dystrophy. Arch. Neurol. 49 (1992) 954-960
33. Voit, T., A. Lamprecht, H.-G. Lenard, H. H. Goebel: Hearing loss in facioscapulohumeral dystrophy. Eur. J. Pediatr. 145 (1986) 280-285
34. Weil, D., S Blanchard, J. Kaplan, P. Guilford, F. Gibson, J. Walsh et al: Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374 (1995) 60-61
35. Weissenbach, J., G. Gyapay, C. Dib, A. Vignal, J. Morrissette, P. Millasseau et al A second-generation linkage map of the human genome. Nature 359 (1992) 794-801
36. Yamamoto, H., Y. Mizuno, K. Hayashi, I. Nonaka, M. Yoshida, E. Ozawa: Expression of dystrophin-associated protein 35DAG (A4) and 50 DAG (A2) is confined to striated muscles. J. Biochem. (Tokyo) 115 (1994) 162-167
37. Yoshida, M., A. Suzuki, H. Yamamoto, S. Noguchi, Y. Mizuno, E. Ozawa: Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J. Biochem. 222 (1994) 1055-1061
38. Zatz, M., K. Matsumura, M. Vainzof, M. R. Passos-Bueno, R. C. M. Pavanello, S. K. Marie, K. P Campbell: Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. J Neurol Sci. 123 (1994) 122-128
39. Zine, E.-A., R. Romand: Expression of alpha-actinin in the stereocilia of hair cells of the inner ear: immunohistochemical localization. Neuroreport 4 (1993) 1350-1352