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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

From the Department of Neurology (G.U., B.W., U.B., J.W.), University of Regensburg, Germany; Departments of Pediatric Genetics (N.E.) and Pediatric Neurology (Y.Y.), Marmara University, Istanbul, Turkey; Departments of Pediatric Neurology (J.P.) and Neurology (K.S.), Klinikum Augsburg, Germany; Center of Human Genetics (C.G., U.H.), Regensburg, Germany; Department of Neuropediatrics (A.O., H.T.), Hacettepe University, Ankara, Turkey; Department of Child Neurology (E.D.), Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey; and private practice (human genetics) (D.W.), Augsburg, Germany.

Address correspondence and reprint requests to Dr. J. Winkler, Department of Neurology, University of Regensburg, Universitaetsstr. 84, D-93053 Regensburg, Germany; e-mail: juergen.winkler{at}klinik.uni-regensburg.de

Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.

Methods: The authors assessed clinically and genetically three isolated cases from Germany and Turkey with symptoms consistent with Andermann syndrome.

Results: The authors detected four novel mutations within the KCC3 gene in their patients: two different truncating mutations in the first patient, a homozygous truncating mutation in the second, and a homozygous missense mutation in the third patient. In contrast to the classic phenotype of the Andermann syndrome linked to truncating KCC3 mutations the phenotype and the course of the disease linked to the missense mutation appeared to be different (i.e., showing additional features like diffuse and widespread white matter abnormalities).

Conclusions: Not only truncating but also missense mutations of the KCC3 gene are associated with Andermann syndrome. Different types of KCC3 mutations may determine different clinical phenotypes.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the April 11 issue to find the title link for this article.

Supported in part by the Tom-Wahlig-Stiftung (Jena, Germany).

Disclosure: The authors report no conflicts of interest.

Received February 24, 2005. Accepted in final form December 12, 2005.

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