A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.
- Author:
Borum SAGONG
1
;
Jeong In BAEK
;
Kyu Yup LEE
;
Un Kyung KIM
Author Information
- Publication Type:Original Article
- Keywords: DFNB4; Hearing Loss; Enlarged Vestibular Aqueduct; SLC26A4; Novel Mutation
- MeSH: Child; DNA; Fathers; Female; Frameshift Mutation*; Hearing Loss*; Hearing*; Heterozygote; Humans; Male; Membranes; Mothers; Parents; Siblings; Vestibular Aqueduct*; Young Adult
- From:Clinical and Experimental Otorhinolaryngology 2017;10(1):50-55
- CountryRepublic of Korea
- Language:English
- 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.
