New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
The authors report a Japanese patient with hereditary sensory and autonomic neuropathy type 2 (HSAN2) who has a new mutation of the HSN2 gene. The pathologic findings of the patient matched those of Canadian patients. They identified a homozygous 1134-1135 ins T mutation, resulting in a frameshift, and the subsequent premature stop codon at residue 378. These observations support the hypothesis that HSN2 is a causative gene for HSAN2.
Takagi
M
M
Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.
Ozawa
T
T
Hara
K
K
Naruse
S
S
Ishihara
T
T
Shimbo
J
J
Igarashi
S
S
Tanaka
K
K
Onodera
O
O
Nishizawa
M
M
D000328:Adult; D044466:Asian People / Q000235:genetics; D002170:Canada; D016368:Frameshift Mutation; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000145:classification / Q000235:genetics* / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D008297:Male; D015778:Minor Histocompatibility Antigens; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases; 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