Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss
Joint Authors
Hu, Songqun
Sun, Feifei
Zhang, Jie
Tang, Yan
Qiu, Jinhong
Wang, Zhixia
Zhang, Luping
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-05
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Nonsyndromic hearing loss has been shown to have high genetic heterogeneity.
In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation.
Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members.
We identified novel pathogenic variants in six families including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D in CDH23; p.T584M/p.D1939N in LOXHD1; p.P1225L in MYO7A; and p.K612X in EYA4.
Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family.
In four families, no pathogenic variants were identified.
Our study provided better understanding of the mutation spectrum of hearing loss in the Chinese population.
American Psychological Association (APA)
Hu, Songqun& Sun, Feifei& Zhang, Jie& Tang, Yan& Qiu, Jinhong& Wang, Zhixia…[et al.]. 2018. Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural Plasticity،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1210121
Modern Language Association (MLA)
Hu, Songqun…[et al.]. Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural Plasticity No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1210121
American Medical Association (AMA)
Hu, Songqun& Sun, Feifei& Zhang, Jie& Tang, Yan& Qiu, Jinhong& Wang, Zhixia…[et al.]. Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. Neural Plasticity. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1210121
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1210121