Article
A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss.
Biochemical and biophysical research communications - 18 Jan 2013
Kim Yoonjung, Kim Hui Ram, Kim Juwon, Shin Joong-Wook, Park Hong-Joon, Choi Jae Young, Kim Un-Kyung, Lee Kyung-A
Abstract excerpt
INTRODUCTION: Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. PS and DFNB4 are genetically homogeneous disorders caused by bi-allelic SLC26A4 mutations. Here, we report a novel synonymous mutation (c.1803G>A, p.Lys601Lys), that caused aberrant splicing in two Korean family members who were clinically...
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