A Novel Frameshift Mutation of SLC26A4 in a Korean Family WithNonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

Collection with item attached
2017
Item details URL
http://open-repository.kisti.re.kr/cube/handle/open_repository/473829.do
DOI
10.21053/ceo.2016.00430
Title
A Novel Frameshift Mutation of SLC26A4 in a Korean Family WithNonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Description
This work was supported by the National Research Foundation (NRF) ofKorea, funded by the Ministry of Science, Information and CommunicationsTechnology (ICT) and Future Planning (2015R1A2A2A01003438). Thisresearch was supported by a grant from the Korea Health Technology R&DProject through the Korea Health Industry Development Institute (KHIDI),funded by the Ministry of Health & Welfare, Republic of Korea(HI14C2119).
abstract
Objectives. We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL.
Methods. We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis for SLC26A4 using direct sequencing.
Results. The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls.
Conclusion. Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking by SLC26A4 is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating the SLC26A4-related mechanisms of HL.
provenance
Made available in Cube on 2018-09-28T10:29:57Z (GMT). No. of bitstreams: 0
language
English
author
Sagong, Borum
Baek, Jeong-In
Lee, Kyu-Yup
Kim, Un-Kyung
accessioned
2018-09-28T10:29:57Z
available
2018-09-28T10:29:57Z
issued
2017
citation
CLINICAL AND EXPERIMENTAL OTORHINOLARYNGOLOGY(10): 1
issn
1976-8710
uri
http://open-repository.kisti.re.kr/cube/handle/open_repository/473829.do
Funder
보건복지부
Funding Program
질환극복기술개발
Project ID
1465020903
Jurisdiction
Rep.of Korea
Project Name
Development of gene therapy for treatment of genetic hearing loss
rights
openAccess
subject
DFNB4
Hearing Loss
Enlarged Vestibular Aqueduct
SLC26A4
NovelMutation
type
article


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