Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
case_series · Level IV
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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.
Medical subject headings
- Chromosomes, Human, Pair 12
- Hereditary Sensory and Autonomic Neuropathies
- Mutation
- Nerve Tissue Proteins