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Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

From the Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium (K.C., K.G.C., N.V., E.N., P.D.J., V.T.); Division of Biochemistry and Genetics (D.P., M.L.) and Division of Clinical Neurophysiology (V.S.), C. Besta National Neurological Institute, Milan, Italy; Department of Internal Medicine, Medical University Graz, Graz, Austria (M.A.-G., T.R.P.); Department of Pediatrics and Child Neurology, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium (G.B., N.G.); Division of Neurology, University Hospital Antwerp, Antwerp, Belgium (K.G.C., P.D.J.); and Department of Dermatology, Medical University Graz, Graz, Austria (W.S.).

Address correspondence and reprint requests to Dr. Vincent Timmerman, Peripheral Neuropathy Group, Department of Molecular Genetics (VIB8), University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium; e-mail: vincent.timmerman{at}ua.ac.be

Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype–phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.

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 March 14 issue to find the title link for this article.

This project was supported by the Research Foundation–Flanders (FWO–Vlaanderen), the University of Antwerp, the Medical Foundation Queen Elisabeth, the Association Belge contre les maladies Neuromusculaires, the Interuniversity Attraction Poles Program P5/19 of the Belgian Federal Science Office, the Austrian Science Fund (FWF, P17494-B14), and the Italian Ministry of Health (Ricerca Corrente 2005). K.C. is a research assistant, and E.N. is a postdoctoral fellow of the FWO, Belgium.

Disclosure: The authors report no conflicts of interest.

Received July 19, 2005. Accepted in final form November 22, 2005.

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