A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
; : 50-55, 2017.
Article
em En
| WPRIM
| ID: wpr-66662
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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.Palavras-chave
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Assunto principal:
Pais
/
Aqueduto Vestibular
/
DNA
/
Mutação da Fase de Leitura
/
Irmãos
/
Pai
/
Audição
/
Perda Auditiva
/
Heterozigoto
/
Membranas
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Clinical and Experimental Otorhinolaryngology
Ano de publicação:
2017
Tipo de documento:
Article