title: New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
abstract: 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.
authors.affiliation: Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Takagi
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
authors.forename: K
authors.initials: K
authors.lastname: Hara
authors.forename: S
authors.initials: S
authors.lastname: Naruse
authors.forename: T
authors.initials: T
authors.lastname: Ishihara
authors.forename: J
authors.initials: J
authors.lastname: Shimbo
authors.forename: S
authors.initials: S
authors.lastname: Igarashi
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: O
authors.initials: O
authors.lastname: Onodera
authors.forename: M
authors.initials: M
authors.lastname: Nishizawa
mesh_terms: 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
chemical_list: 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