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Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

  1. Thierry Bienvenu1,*,
  2. Isabelle Souville1,
  3. Karine Poirier1,
  4. Cécile Aquaviva1,
  5. Lydie Burglen2,
  6. Jeanne Amiel3,
  7. Bénédicte Héron4,
  8. Anna Kaminska4,
  9. Philippe Couvert1,
  10. Cherif Beldjord1,
  11. Jamel Chelly1

Article first published online: 22 AUG 2001

DOI: 10.1002/humu.1182

Issue

Human Mutation

Human Mutation

Volume 18, Issue 3, pages 251–252, September 2001

Additional Information

How to Cite

Bienvenu, T., Souville, I., Poirier, K., Aquaviva, C., Burglen, L., Amiel, J., Héron, B., Kaminska, A., Couvert, P., Beldjord, C. and Chelly, J. (2001), Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy . Hum. Mutat., 18: 251–252. doi: 10.1002/humu.1182

Author Information

  1. 1

    Laboratoire de Biochimie et Génétique Moléculaire and INSERM U129-ICGM, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, France

  2. 2

    Unité de Génétique Médicale, Hôpital Armand Trousseau, 26 avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France

  3. 3

    Département de Génétique Clinique, Hôpital Necker-Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France

  4. 4

    Service de Neuropédiatrie, Hôpital Cochin-Saint-Vincent de Paul, 74 avenue Denfert-Rochereau, 75674 Paris Cedex 14, France

*Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin and Laboratoire de Génétique et de Physiopathologie des retrads mentaux, INSERM U129, ICGM, 123 Boulevard de Port Royal, 75014 Paris, France; Tel: 0144412479; Fax: 0144411522

Publication History

  1. Issue published online: 22 AUG 2001
  2. Article first published online: 22 AUG 2001
  3. Manuscript Accepted: 20 JUN 2001
  4. Manuscript Received: 14 MAR 2001

Funded by

  • Association Française du Syndrome de Rett
  • Association Française contre les Myopathies
  • Fondation pour la recherche médicale

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Keywords:

  • Rett syndrome;
  • methyl-CpG binding protein;
  • MECP2;
  • mutation screening

Abstract

Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations (named 345delC, 895del202, 989ins18del8, 996insAG and 1124del53) in exon 3 and 4 of the MECP2 gene. To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely. Hum Mutat 18:251–252, 2001. © 2001 Wiley-Liss, Inc.

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