Skip to main content
Fig. 3 | BMC Neurology

Fig. 3

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

Fig. 3

a The schematic diagram of WNK/HSN2 gene. The identified nonsense mutation c.3718C > A in HSN2 exon of WNK1 transcript alters the tyrosine codon TAC to the stop codon TAA which leads to a truncated protein. b Direct sequencing of the HSN2 amplicon containing the mutation in all the members of the affected family. Healthy subjects are in heterozygous status (III:5, III:6, and IV:10) but affected members (IV:11, IV:12, IV:13, and IV:14) are homozygous for this mutation

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us