Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Publikation aus Health
Coen K., Pareyson D., Auer-Grumbach M., Buyse G., Goemans N., Claeys K. G., Verpoorten N., Laurà M., Scaioli V., Salmhofer W., Univ.-Prof. Dr. Thomas Pieber, Nelis E., Jonghe P. D., Timmerman V.
Antwerp, Belgium Neurology 66 (5): 748-751., 3/2006
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.