Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

Science

Volumn 298, Issue 5599, 2002, Pages 1779-1781

  Molinari, Florence ^a   Rio, Marlène ^a   Meskenaite, Virginia ^b   Encha Razavi, Férechté ^a   Augé, Joelle ^a   Bacq, Delphine ^c   Briault, Sylvain ^d   Vekemans, Michel ^a   Munnich, Arnold ^a   Attié Bitach, Tania ^a   Sonderegger, Peter ^b   Colleaux, Laurence ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MEMBRANES; BRAIN; DISEASES; ELECTRON MICROSCOPY; GENES; NEUROLOGY; PHYSIOLOGY;

MENTAL RETARDATION (MR);

PROTEINS;

NEUROTRYPSIN; SERINE PROTEINASE; UNCLASSIFIED DRUG;

GENE; MUTATION;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; ENZYME STRUCTURE; FETUS DEVELOPMENT; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; IMMUNOELECTRON MICROSCOPY; IN SITU HYBRIDIZATION; LEARNING; MEMORY; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; NERVE ENDING; PATHOPHYSIOLOGY; PRESYNAPTIC NERVE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SYNAPTIC MEMBRANE; TISSUE DISTRIBUTION;

ADOLESCENT; ADULT; BRAIN; FEMALE; FETUS; GENE EXPRESSION; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MICROSCOPY, IMMUNOELECTRON; PEDIGREE; SEQUENCE DELETION; SERINE ENDOPEPTIDASES; SPINAL CORD; SYNAPSES; SYNAPTIC MEMBRANES;

EID: 18744371004     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1076521     Document Type: Article

References (32)

1. N. Roeleveld, G. A. Zielhuis, F. Gabreels, Dev. Med. Child Neurol. 39, 125 (1997).
2. P. Stromme, Dev. Med. Child Neurol. 42, 76 (2000).
3. J. Gezc et al., Nature Genet. 13, 105 (1996).
4. P. D'Adamo et al., Nature Genet. 19, 134 (1998).
5. P. Billuard et al., Nature 392, 923 (1998).
6. K. M. Allen et al., Nature Genet. 20, 25 (1998).
7. K. Merienne et al., Nature Genet. 22, 13 (1999).
8. A. Carrie et al., Nature Genet. 23, 25 (1999).
9. R. Zemni et al., Nature Genet. 24, 167 (2000).
10. K. Kutsche et al., Nature Genet. 26, 247 (2000).
11. I. Meloni et al., Nature Genet 30, 436 (2002).
12. T. Bienvenu et al., Hum. Mol. Genet. 8, 981 (2002).
13. W. Wu, A. Glinka, H. Delius, C. Niehrs, Curr. Biol. 10, 1611 (2000).
14. Q. Lan, L. L. Niu, A. M. Fallon, Biochim. Biophys. Acta 1218, 460 (1994).
15. N. Tiso et al., Biochem. Biophys. Res. Commun. 225, 983 (1996).
16. W. T. Tse et al., Genomics 10, 858 (1991).
17. R. M. Tombes, G. W. Krystal, Biochim. Biophys. Acta 1355, 281 (1997).
18. X. Zhu et al., Cell 85, 661 (1996).
19. Y. Yamamura et al., Biochem. Biophys. Res. Commun. 239, 386 (1997).
20. T. P. Gschwend, S. R. Krueger, S. V. Kozlov, D. P. Wolfer, P. Sonderegger, Mol. Cell. Neurosci. 9, 207 (1997).
21. D. P. Wolfer, R. Lang, P. Cinelli, R. Madani, P. Sonderegger, Mol. Cell. Neurosci. 18, 407 (2001).
22. Materials and methods are available as supporting material on Science Online.
23. F. Molinari et al., unpublished observations.
24. S. Yoshida, S. Shiosaka, Int. J. Mol. Med. 3, 405 (1999).
25. Z. Qian, M. E. Gilbert, M. A. Colicos, E. R. Kandel, D. Kuhl, Nature 361, 453 (1993).
26. N. W. Seeds, B. L. Williams, P. C. Bickford, Science 270, 1992 (1995).
27. U. Frey, M. Muller, D. Kuht, J. Neurosci. 16, 2057 (1996).
28. Y. Y. Huang et al., Proc. Natl. Acad. Sci. U.S.A. 93, 699 (1996).
29. M. B. Gingrich, C. E. Junge P. Lynbostavsky, S. F. Traynetis, J. Neurosci. 20, 4582 (2000).
30. A. Hirata et al., Cell. Neurosci. 17, 600 (2000).
31. A. Luthi et al., J. Neurosci. 17, 4688 (1997).
32. We wish to express our gratitude to the patients and their families for cooperation. We acknowledge the Centre National de Genotypage for its contribution to the genomewide screening, S. Audollent for technical assistance, and M. Salvador for helpful discussion. This study was supported in part by the Centre National de la Recherche Scientifique, the Fondation de France, a EURExpress grant, and the Swiss Nationat Science Foundation.