Mutation in Brief

You have free access to this content

Novel mutations in the TRIM37 gene in Mulibrey Nanism†‡

  1. Riikka H. Hämäläinen1,
  2. Kristiina Avela1,
  3. Julie A. Lambert1,
  4. Jukka Kallijärvi1,
  5. Wafaa Eyaid2,
  6. Jürgen Gronau3,
  7. Andrew P. Ignaszewski4,
  8. Deborah McFadden5,
  9. Giovanni Sorge6,
  10. Marita Lipsanen-Nyman7,
  11. Anna-Elina Lehesjoki1,*

Article first published online: 31 MAR 2004

DOI: 10.1002/humu.9233

Issue

Human Mutation

Human Mutation

Volume 23, Issue 5, page 522, May 2004

Additional Information

How to Cite

Hämäläinen, R. H., Avela, K., Lambert, J. A., Kallijärvi, J., Eyaid, W., Gronau, J., Ignaszewski, A. P., McFadden, D., Sorge, G., Lipsanen-Nyman, M. and Lehesjoki, A.-E. (2004), Novel mutations in the TRIM37 gene in Mulibrey Nanism. Human Mutation, 23: 522. doi: 10.1002/humu.9233

Author Information

  1. 1

    The Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

  2. 2

    King Fahad Hospital, Department of Pediatrics, Genetics Division, Riyadh, Saudi Arabia

  3. 3

    Children's Hospital, Medizinische Hochschule Hannover, Hannover Germany

  4. 4

    St. Pauls' Hospital, Heart Function Program, University of British Columbia, Vancouver, British Columbia, Canada

  5. 5

    Department of Pathology, Children's and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada

  6. 6

    Department of Pediatrics, Congenital Malformation Syndromes and Metabolic Diseases Unit, University of Catania, Catania, Italy

  7. 7

    The Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland

*Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63 (Haartmaninkatu 8), 00014 University of Helsinki, Finland

  1. †

    Communicated by Andreas Gal

  2. ‡

    Online Citation: Human Mutation, Mutation in Brief #704 (2004) Onlinehttp://www3.interscience.wiley.com/homepages/38515/pdf/mutation/704.pdf

Publication History

  1. Issue published online: 31 MAR 2004
  2. Article first published online: 31 MAR 2004
  3. Manuscript Accepted: 8 DEC 2003
  4. Manuscript Received: 18 AUG 2003

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (495K)

Keywords:

  • Mulibrey Nanism;
  • TRIM37;
  • peroxisomal disorder;
  • mutation detection

Abstract

Mulibrey nanism is an autosomal recessive prenatal-onset growth disorder of unknown pathogenesis. The main clinical features are pre- and postnatal growth failure, characteristic dysmorphic craniofacial features, heart disease, and hepatomegaly. Five truncating mutations in the TRIM37 gene have previously been reported in Mulibrey nanism patients. The TRIM37 protein encodes a novel protein of unknown function. It contains a tripartite motif (TRIM, also denoted the RING-B-box-Coiled-coil or RBCC domain) and a TRAF (tumor necrosis factor-receptor associated factor) domain. TRIM37 localizes to peroxisomes classifying Mulibrey nanism as a peroxisomal disorder. Here we have characterized the genomic structure of the TRIM37 gene, which has 24 exons spanning& tilde;109 kb of genomic DNA. Further, we report six novel disease-associated mutations, five of which predict a truncated protein: c.745C>T (p.Gln249X), c.1411C>T (p.Arg471X), c.2056C>T (p.Arg686X), and an 8.6 kb genomic deletion (c.1314+507_1668-207del resulting in p.Arg439fsX4). The sixth mutation (c.965G>T) is the first missense mutation (p.Gly322Val) associated with Mulibrey nanism. It affects the TRAF domain of TRIM37 and results in altered subcellular localization of the mutant TRIM37 protein, further suggesting that it is pathogenic. © 2004 Wiley-Liss, Inc.

Get PDF (495K)