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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

From the Department of Molecular Genetics (Drs. Verhoeven, Timmerman, and De Jonghe, K. Coen, E. De Vriendt, A. Jacobs, V. Van Gerwen, and I. Smouts), Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Department of Neurology (Dr. De Jonghe), University Hospital Antwerp, and Born–Bunge Foundation (Dr. Martin), Antwerpen, Belgium; and Department of Neurology (Dr. Pou–Seradell), Hospital del Mar, Autonome University of Barcelona, Spain.

Address correspondence and reprint requests to Dr. P. De Jonghe, Peripheral Neuropathy Group, Department of Molecular Genetics (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium; e-mail: peter.dejonghe{at}ua.ac.be

Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160GC; p.G387A) in twin sisters with a severe HSN I phenotype is reported.

Received February 11, 2002. Accepted in final form November 18, 2003.

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