Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
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.
Coen
K
K
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium.
Pareyson
D
D
Auer-Grumbach
M
M
Buyse
G
G
Goemans
N
N
Claeys
K G
KG
Verpoorten
N
N
Laurà
M
M
Scaioli
V
V
Salmhofer
W
W
Pieber
T R
TR
Nelis
E
E
De Jonghe
P
P
Timmerman
V
V
D000328:Adult; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns; D008297:Male; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases; D017384:Sequence Deletion; D000076204:WNK Lysine-Deficient Protein Kinase 1
D047908:Intracellular Signaling Peptides and Proteins; D015778:Minor Histocompatibility Antigens; D009419:Nerve Tissue Proteins; D017346:Protein Serine-Threonine Kinases; D000076204:WNK Lysine-Deficient Protein Kinase 1; C498743:WNK1 protein, human