Article
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Neurology - 14 Mar 2006
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
Abstract excerpt
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...
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