Literature DB >> 16636245

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

M Takagi1, T Ozawa, K Hara, S Naruse, T Ishihara, J Shimbo, S Igarashi, K Tanaka, O Onodera, M Nishizawa.   

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.

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Year:  2006        PMID： 16636245     DOI： 10.1212/01.wnl.0000208415.90685.cd

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

Review 1.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

2.  Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

Authors:  Hyun-Jung Cho; Byoung Joon Kim; Yeon-Lim Suh; Jae-Young An; Chang-Seok Ki
Journal:  J Hum Genet       Date:  2006-09-01       Impact factor: 3.172

3.  Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families.

Authors:  G Pacheco-Cuellar; L M González-Huerta; J M Valdés-Miranda; H Peláez-González; S Zenteno-Bacheron; J Cazarin-Barrientos; S A Cuevas-Covarrubias
Journal:  J Neurol       Date:  2011-04-06       Impact factor: 4.849

4.  Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Authors:  Masoud Shekarabi; Nathalie Girard; Jean-Baptiste Rivière; Patrick Dion; Martin Houle; André Toulouse; Ronald G Lafrenière; Freya Vercauteren; Pascale Hince; Janet Laganiere; Daniel Rochefort; Laurence Faivre; Mark Samuels; Guy A Rouleau
Journal:  J Clin Invest       Date:  2008-07       Impact factor: 14.808

5.  Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

Authors:  Marco L Loggia; M Catherine Bushnell; Martine Tétreault; Isabelle Thiffault; Claude Bhérer; Nazma K Mohammed; Anil A Kuchinad; Audrey Laferrière; Marie-Josée Dicaire; Lina Loisel; Jeffrey S Mogil; Bernard Brais
Journal:  J Neurosci       Date:  2009-02-18       Impact factor: 6.167

6.  Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report.

Authors:  Keiko Yamada; Junhui Yuan; Tomoo Mano; Hiroshi Takashima; Masahiko Shibata
Journal:  BMC Neurol       Date:  2016-10-21       Impact factor: 2.474

7.  The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.

Authors:  James Jiqi Wang; Bo Yu; Zongzhe Li
Journal:  BMC Med Genet       Date:  2019-05-27       Impact factor: 2.103
  7 in total

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