A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

Abstract Background Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction. There are different subtypes of HSAN2, including HSAN2A, which is caused by mutations in WNK1/HSN2...

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Bibliographic Details
Main Authors: Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani, Sareh Asadi
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Neurology
Subjects:
Hereditary sensory and autonomic neuropathies
HSAN2
Nonsense mutation
Whole exome sequencing, WNK1 gene
Online Access:http://link.springer.com/article/10.1186/s12883-018-1201-6

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http://link.springer.com/article/10.1186/s12883-018-1201-6

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