Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II |
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| Authors: | Coen K Pareyson D Auer-Grumbach M Buyse G Goemans N Claeys K G Verpoorten N Laurà M Scaioli V Salmhofer W Pieber T R Nelis E De Jonghe P Timmerman V |
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| Institution: | Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium. |
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| Abstract: | 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. |
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