Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families
Joint Authors
Qiu, Yue
Chen, Sen
Xie, Le
Xu, Kai
Lin, Yi
Bai, Xue
Zhang, Hui-Min
Liu, Xiao-Zhou
Jin, Yuan
Sun, Yu
Kong, Wei-Jia
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-18
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Auditory neuropathy spectrum disorder (ANSD), also called auditory neuropathy (AN), is a unique type of prelingual hearing impairment.
Up to 10% of deaf infants and children are affected by this disease.
Mutation of the OTOF gene which encodes otoferlin is the common cause of congenital nonsyndromic ANSD.
To date, over 110 mutations have been identified in the OTOF gene according to the Human Gene Mutation Database (HGMD).
Here, next-generation sequencing (NGS) revealed that the compound heterozygous mutations c.4748G>A/c.2523+1G>T and c.5248G>C/c.5098G>C of the OTOF gene were present in two Chinese ANSD patients.
Each patient had a known pathogenic mutation (c.4748G>A or c.5098G>C) and a novel mutation (c.2523+1G>T or c.5248G>C).
Comparative amino acid sequence analysis across different species revealed that the residues at these novel mutation sites are evolutionarily highly conservative.
This indicated that the novel mutations were possible causes of the disorder in the patients.
Our findings extend the OTOF mutation spectrum and further confirm the role of the OTOF gene in ANSD.
American Psychological Association (APA)
Qiu, Yue& Chen, Sen& Xie, Le& Xu, Kai& Lin, Yi& Bai, Xue…[et al.]. 2019. Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Neural Plasticity،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1201709
Modern Language Association (MLA)
Qiu, Yue…[et al.]. Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Neural Plasticity No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1201709
American Medical Association (AMA)
Qiu, Yue& Chen, Sen& Xie, Le& Xu, Kai& Lin, Yi& Bai, Xue…[et al.]. Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families. Neural Plasticity. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1201709
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1201709