A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency
Objective: To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL). Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total ch...
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doaj-5d67d601c8e14e5888fd88380e8587852020-11-24T21:06:11ZengElsevierJournal of Otology1672-29302016-06-01112788310.1016/j.joto.2016.06.001A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiencyJing Zou0Xiangqiang Duan1Guiliang Zheng2Zhen Zhao3Shiyue Chen4Pu Dai5Hongliang Zheng6Department of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Radiology, National Key Discipline, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Center for Otolaryngology-Head & Neck Surgery of Chinese PLA, Changhai Hospital, Second Military Medical University, Shanghai, ChinaObjective: To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL). Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol (5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and IgG were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immune-associated genes were sequenced using the next generation sequencing technique. Results: Mutations were detected in 5 genes, including the phosphoinositide 3-kinase catalytic subunit delta (PIK3CD), caspase recruitment domain-containing protein 9 (CARD9), complement factor H-related (CFHR2), immunoglobulin lambda-like polypeptide 1 Protein (IGLL1), and transmembrane channel-like gene family 8 (TMC8). In the PIK3CD gene, a C896T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease. Conclusion: The PIK3CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.http://www.sciencedirect.com/science/article/pii/S1672293016300277Sudden sensorineural hearing lossImmunologyGeneticsNext generation sequencing |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jing Zou Xiangqiang Duan Guiliang Zheng Zhen Zhao Shiyue Chen Pu Dai Hongliang Zheng |
spellingShingle |
Jing Zou Xiangqiang Duan Guiliang Zheng Zhen Zhao Shiyue Chen Pu Dai Hongliang Zheng A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency Journal of Otology Sudden sensorineural hearing loss Immunology Genetics Next generation sequencing |
author_facet |
Jing Zou Xiangqiang Duan Guiliang Zheng Zhen Zhao Shiyue Chen Pu Dai Hongliang Zheng |
author_sort |
Jing Zou |
title |
A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency |
title_short |
A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency |
title_full |
A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency |
title_fullStr |
A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency |
title_full_unstemmed |
A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency |
title_sort |
novel pik3cd c896t mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: an indication of primary immunodeficiency |
publisher |
Elsevier |
series |
Journal of Otology |
issn |
1672-2930 |
publishDate |
2016-06-01 |
description |
Objective: To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss (SSNHL).
Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol (5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and IgG were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immune-associated genes were sequenced using the next generation sequencing technique.
Results: Mutations were detected in 5 genes, including the phosphoinositide 3-kinase catalytic subunit delta (PIK3CD), caspase recruitment domain-containing protein 9 (CARD9), complement factor H-related (CFHR2), immunoglobulin lambda-like polypeptide 1 Protein (IGLL1), and transmembrane channel-like gene family 8 (TMC8). In the PIK3CD gene, a C896T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease.
Conclusion: The PIK3CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression. |
topic |
Sudden sensorineural hearing loss Immunology Genetics Next generation sequencing |
url |
http://www.sciencedirect.com/science/article/pii/S1672293016300277 |
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