Health

Scientific publication

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

Publication from Health

Coen K., Pareyson D., Auer-Grumbach M., Buyse G., Goemans N., Claeys K. G., Verpoorten N., Laurà M., Scaioli V., Salmhofer W., Prof Dr Thomas Pieber, Nelis E., Jonghe P. D., Timmerman V.

Antwerp, Belgium Neurology 66 (5): 748-751., 3/2006

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.