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Brain Advance Access published online on July 1, 2004
Brain, doi:10.1093/brain/awh210
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Received December 19, 2003
Revised March 5, 2004
Accepted April 8, 2004

Article

Homozygosity for CCTG mutation in myotonic dystrophy type 2

Benedikt G. H. Schoser 1*, Wolfram Kress 2, Maggie C. Walter 1, Birgit Halliger-Keller 2, Hanns Lochmüller 1, Kenneth Ricker 3

1 Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
2 Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany
3 Department of Neurology, Julius Maximilians University, Würzburg, Germany

* To whom correspondence should be addressed. E-mail: bschoser{at}fbs.med.uni-muenchen.de.


  Abstract

Summary Myotonic dystrophy type 2 (DM2) is caused by a dominantly transmitted CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene on chromosome 3q. DM2 patients with two mutant alleles have not been reported so far. In one large consanguineous family from Afghanistan, we found three homozygotes for the DM2 mutation. The oldest patient was clinically more severely affected, compared with the two younger homozygotes, but for the clinical course of symptoms all three homozygotes were within the range expected for heterozygotes. Further investigations, such as mutation repeat length, muscle histology, anti-muscleblind-like 1 stainings or brain imaging studies, at least at short-term observation, showed no differences between heterozygotes and homozygotes. Twenty of 24 children, aged 2-21 years, were available for clinical examination. None of these children have signs or symptoms of disease until the age of 18 years. Homozygosity for the DM2 expansion does not seem to alter the disease phenotype as compared with the heterozygous state.

Keywords: CCTG expansion; mutational homozygosity; muscle biopsy; myotonic dystrophy type 2; proximal myotonic myopathy (PROMM).
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