NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness
Joint Authors
Chen, Penghui
He, Longxia
Pang, Xiuhong
Wang, Xiaowen
Yang, Tao
Wu, Hao
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-11-14
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases.
Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness.
In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness.
No pathogenic mutation was identified by targeted NGS in 72 nonsyndromic and another 72 syndromic deafness genes.
Whole exome sequencing, however, identified a p.E313K mutation in NLRP3, a gene reported to cause syndromic deafness Muckle-Wells Syndrome (MWS) but not included in any targeted NGS panels for deafness in previous reports.
Follow-up clinical evaluation revealed only minor inflammatory symptoms in addition to deafness in six of the nine affected members, while the rest, three affected members, including the proband had no obvious MWS-related inflammatory symptoms.
Immunostaining of the mouse cochlea showed a strong expression of NLRP3 in the spiral ganglion neurons.
Our results suggested that NLRP3 may have specific function in the spiral ganglion neurons and can be associated with both syndromic and nonsyndromic sensorineural deafness.
American Psychological Association (APA)
Chen, Penghui& He, Longxia& Pang, Xiuhong& Wang, Xiaowen& Yang, Tao& Wu, Hao. 2016. NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plasticity،Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1113053
Modern Language Association (MLA)
Chen, Penghui…[et al.]. NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plasticity No. 2016 (2016), pp.1-6.
https://search.emarefa.net/detail/BIM-1113053
American Medical Association (AMA)
Chen, Penghui& He, Longxia& Pang, Xiuhong& Wang, Xiaowen& Yang, Tao& Wu, Hao. NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plasticity. 2016. Vol. 2016, no. 2016, pp.1-6.
https://search.emarefa.net/detail/BIM-1113053
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1113053