Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Human Molecular Genetics

Volumn 18, Issue 20, 2009, Pages 3779-3794

  Daoud, Fatma ^a   Angeard, Nathalie ^b,c   Demerre, Bénédicte ^a   Martie, Itxaso ^a   Benyaou, Rabah ^b   Leturcq, France ^a   Cossée, Mireille ^a   Deburgrave, Nathalie ^a   Saillour, Yoann ^a   Tuffery, Sylvie ^d   Urtizberea, Andoni ^e   Toutain, Annick ^f   Echenne, Bernard ^g   Frischman, Martine ^h   Mayer, Michèle ⁱ   Desguerre, Isabelle ^j   Estournet, Brigitte ^k   Réveillère, Christian ^h   Penisson Besnier, ^l   Cuisset, Jean Marie ^m   Kaplan, Jean Claude ^a   Héron, Delphine ^b   Rivier, François ^g   Chelly, Jamel ^a,n   more..

^a INSTITUT COCHIN   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d Institut de Génétique   (France)

^e Hôpital de Hendaye   (France)

^f UNIVERSITY HOSPITAL OF TOURS   (France)

^g HÔPITAL SAINT ELOI   (France)

^h Association Francaise Contre les Myopathies   (France)

ⁱ ARMAND TROUSSEAU HOSPITAL   (France)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k RAYMOND POINCARÉ HOSPITAL   (France)

^l ANGERS UNIVERSITY HOSPITAL   (France)

^m LILLE UNIVERSITY HOSPITAL   (France)

ⁿ CHU Cochin ^*  (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; DYSTROPHIN 17; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; COGNITION; COGNITIVE DEVELOPMENT; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INTELLIGENCE QUOTIENT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MENTAL PERFORMANCE; NEUROPSYCHOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; COGNITION; COHORT STUDIES; DYSTROPHIN; FEMALE; GENE EXPRESSION; HUMANS; INTELLIGENCE TESTS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 70349573300     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp320     Document Type: Article

References (48)

1. Emery, A. and Muntoni, F. (2003) Duchenne Muscular Dystrophy, 3rd edn. Oxford University Press, Oxford.
2. Emery, A.E. (1998) The muscular dystrophies. BMJ, 317, 991-995.
3. Bresolin, N., Castelli, E., Comi, G.P., Felisari, G., Bardoni, A., Perani, D., Grassi, F., Turconi, A., Mazzucchelli, F., Gallotti, D. et al. (1994) Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul. Disord., 4, 359-369.
4. Billard, C., Gillet, P., Signoret, J.L., Uicaut, E., Bertrand, P., Fardeau, M., Barthez-Carpentier, M.A. and Santini, J.J. (1992) Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy. Neuromuscul. Disord., 2, 371-378.
5. Karagan, N.J. and Sorensen, J.P. (1981) Intellectual functioning in non-Duchenne muscular dystrophy. Neurology, 31, 448-452.
6. Bushby, K.M. and Gardner-Medwin, D. (1993) The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J. Neurol., 240, 98-104.
7. Muntoni, F., Torelli, S. and Ferlini, A. (2003) Dystrophin and mutations: One gene, several proteins, multiple phenotypes. Lancet Neurol., 2, 731-740.
8. Lenk, U., Hanke, R., Thiele, H. and Speer, A. (1993) Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum. Mol. Genet. 2, 1877-1881.
9. Tuffery-Giraud, S., Beroud, C., Leturcq, F., Yaou, R.B., Hamroun, D., Michel-Calemard, L., Moizard, M.P., Bernard, R., Cossee, M., Boisseau, P. et al. (2009) Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase. Hum. Mutat., 30, 934-945.
10. White, S., Kalf, M., Liu, Q., Villerius, M., Engelsma, D., Kriek, M., Vollebregt, E., Bakker, B., van Ommen, G.J., Breuning, M.H. et al. (2002) Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am. J. Hum. Genet., 71, 365-374.
11. Hodgson, S.V., Abbs, S., Clark, S., Manzur, A., Heckmatt, J.Z., Dubowitz, V. and Bobrow, M. (1992) Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromuscul. Disord., 2, 269-276.
12. Bushby, K.M., Appleton, R., Anderson, L.V., Welch, J.L., Kelly, P. and Gardner-Medwin, D. (1995) Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev. Med. Child Neurol., 37, 260-269.
13. Ahn, A.H. and Kunkel, L.M. (1993) The structural and functional diversity of dystrophin. Nat. Genet., 3, 283-291.
14. Barnea, E., Zuk, D., Simantov, R., Nudel, U. and Yaffe, D. (1990) Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells. Neuron, 5, 881-888.
15. Chelly, J., Hamard, G., Koulakoff, A., Kaplan, J.C., Kahn, A. and Berwald-Netter, Y. (1990) Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature, 344, 64-65.
16. Jung, D., Filliol, D., Metz-Boutigue, M.H. and Rendon, A. (1993) Characterization and subcellular localization of the dystrophin-protein 71 (Dp71) from brain. Neuromuscul. Disord., 3, 515-518.
17. Lederfein, D., Levy, Z., Augier, N., Mornet, D., Morris, G., Fuchs, O., Yaffe, D. and Nudel, U. (1992) A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc. Natl Acad. Sci. USA, 89, 5346-5350.
18. Hugnot, J.P., Gilgenkrantz, H., Vincent, N., Chafey, P., Morris, G.E., Monaco, A.P., Berwald-Netter, Y., Koulakoff, A., Kaplan, J.C., Kahn, A. et al. (1992) Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc. Natl Acad. Sci. USA, 89, 7506-7510.
19. Moizard, M.P., Billard, C., Toutain, A., Berret, F., Marmin, N. and Moraine, C. (1998) Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am. J. Med. Genet., 80, 32-41.
20. Rapaport, D., Passos-Bueno, M.R., Brandao, L., Love, D., Vainzof, M. and Zatz, M. (1991) Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. Am. J. Med. Genet., 39, 437-441.
21. Felisari, G., Martinelli Boneschi, F., Bardoni, A., Sironi, M., Comi, G.P., Robotti, M., Turconi, A.C., Lai, M., Corrao, G. and Bresolin, N. (2000) Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology, 55, 559-564.
22. Bardoni, A., Felisari, G., Sironi, M., Comi, G., Lai, M., Robotti, M. and Bresolin, N. (2000) Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. Neuromuscul. Disord. 10, 194-199.
23. Melis, M.A., Muntoni, F., Cau, M., Loi, D., Puddu, A., Boccone, L., Mateddu, A., Cianchetti, C. and Cao, A. (1998) Novel nonsense mutation (C- > A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. Hum. Mutat., (Suppl. 1), S137-S138.
24. Moizard, M.P., Toutain, A., Fournier, D., Berret, F., Raynaud, M., Billard, C., Andres, C. and Moraine, C. (2000) Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening. Eur. J. Hum. Genet., 8, 552-556.
25. Tuffery, S., Lenk, U., Roberts, R.G., Coubes, C., Demaille, J. and Claustres, M. (1995) Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum. Mutat., 6, 126-135.
26. Deburgrave, N., Daoud, F., Llense, S., Barbot, J.C., Recan, D., Peccate, C., Burghes, A.H., Beroud, C., Garcia, L., Kaplan, J.C. et al. (2007) Protein- and mRNA-based phenotype-genotype correlations in DMD/ BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum. Mutat., 28, 183-195.
27. Albrecht, D.E. and Froehner, S.C. (2002) Syntrophins and dystrobrevins: defining the dystrophin scaffold at synapses. Neurosignals, 11 123-129.
28. Lidov, H.G. (1996) Dystrophin in the nervous system. Brain Pathol. 6, 63-77.
29. Brunig, I., Suter, A., Knuesel, I., Luscher, B. and Fritschy, J.M. (2002) GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin. J. Neurosci. 22, 4805-4813.
30. Fritschy, J.M., Schweizer, C., Brunig, I. and Luscher, B. (2003) Pre- and post-synaptic mechanisms regulating the clustering of type A gamma-aminobutyric acid receptors (GABAA receptors). Biochem. Soc. Trans., 31, 889-892.
31. Knuesel, I., Mastrocola, M., Zuellig, R.A., Bornhauser, B., Schaub, M.C. and Fritschy, J.M. (1999) Short communication: Altered synaptic clustering of GABAA receptors in mice lacking dystrophin (mdx mice). Eur. J. Neurosci., 11, 4457-4462.
32. Haenggi, T., Soontornmalai, A., Schaub, M.C. and Fritschy, J.M. (2004) The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain. Neuroscience, 129, 403-413.
33. Dalloz, C., Sarig, R., Fort, P., Yaffe, D., Bordais, A., Pannicke, T., Grosche, J., Mornet, D., Reichenbach, A., Sahel, J. et al. (2003) Targeted inactivation of dystrophin gene product Dp71: Phenotypic impact in mouse retina. Hum. Mol. Genet., 12, 1543-1554.
34. Gorecki, D.C. and Barnard, E.A. (1995) Specific expression of G-dystrophin (Dp71) in the brain. Neuroreport, 6, 893-896.
35. Aleman, V., Osorio, B., Chavez, O., Rendon, A., Mornet, D. and Martinez, D. (2001) Subcellular localization of Dp71 dystrophin isoforms in cultured hippocampal neurons and forebrain astrocytes. Histochem. Cell Biol., 115, 243-254.
36. Blake, D.J., Hawkes, R., Benson, M.A. and Beesley, P.W. (1999) Different dystrophin-like complexes are expressed in neurons and glia. J. Cell Biol., 147, 645-658.
37. Bornemann, A. and Anderson, L.V. (2000) Diagnostic protein expression in human muscle biopsies. Brain Pathol., 10, 193-214.
38. Tuffery-Giraud, S., Saquet, C., Chambert, S., Echenne, B., Marie Cuisset, J., Rivier, F., Cossee, M., Philippe, C., Monnier, N., Bieth, E. et al. (2004) The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: Experience of a national referral centre. Neuromuscul. Disord., 14, 650-658.
39. Wechsler, D. (1967) WPPSI Manual: Whechsler Preschool and Primary Scale of Intelligence, Pysiological Corporation, Saint Antonio, TX.
40. Wechsler, D. (1989) WPPSI-R Manual: Whechsler Preschool and Primary Scale of Intelligence-Revised, Pysiological Corporation, Saint Antonio, TX.
41. Wechsler, D. (1974) WISC-R Manual: Whechsler Scale Intelligence for Children-Revised, Pysiological Corporation, New York.
42. Wechsler, D. (1991) WISC III Manual: Whechsler Scale Intelligence for Children, 3rd edn. Pysiological Corporation, New York.
43. Wechsler, D. (1981) WAIS-R Manual: Whechsler Adult Intelligence Scale-Revised, Pysiological Corporation, New York.
44. Zazzo, R. (1966) NEMI: Nouvelle Echelle Metrique de l'Intelligence Armand Colin, Paris.
45. Burgermeister, B.B., Blum, L.H., and Lorge, I. (1954) The Colombia Mental Maturity Scale Manual, Honkers-on-Hudson, New York.
46. McCarthy, D. (1970) McCarthy Scale of Children's Abilities, Psychological Corporation, New York.
47. Thermal, L.M. and Merrill, M.A. (1960) Standfort-Binet Intelligence Scale: Manual for the Third Revision Form L-M, Houghton Mufflin, Boston.
48. Kaufman, A.S. and Kaufman, N.L. (1993) Batterie pour l'Examen Psychologique de l'Enfant, ECPA, Paris.