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Neuropediatrics 1997; 28(1): 15-17
DOI: 10.1055/s-2007-973657
Short communications

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Strategy for Mutation Detection in CLN3: Characterisation of Two Finnish Mutations

Patricia B. Munroe1 , Angela M. O'Rawe1 , Hannah M. Mitchison1 , Irma E. Järvelä2 , Pirkko Santavuori3 , Terry J. Lerner4 , P. E. M. Taschner5 , R. M. Gardiner1 , Sara E. Mole1
  • 1Department of Paediatrics, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK,
  • 2Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, Helsinki, Finland,
  • 3Children's Hospital, Paediatric Neurology, University of Helsinki, Helsinki, Finland,
  • 4Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA,
  • 5Department of Human Genetics, Leiden University, Sylvius Laboratory, Wassenaarseweg 72, Leiden, The Netherlands
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Publication History

Publication Date:
13 March 2007 (online)

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Abstract

A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 Kb), the other a point mutation affecting the 5'splice donor site of an intron.

Key words

CLN3 gene - Mutation - NCL - Finnish