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 pr...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 Ig G 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 immuneassociated 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 PIK3 CD gene, a C896 T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease.Conclusion: The PIK3 CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.展开更多
基金supported by the Ministry of Health Fund Industry of China,as part of project"Prevention,Intervention,and Extend Application of Deafness with Birth Defect"(contract#:201202005)the 1255 project of Changhai Hospital,Second Military Medical University,Shanghai,China
文摘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 Ig G 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 immuneassociated 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 PIK3 CD gene, a C896 T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease.Conclusion: The PIK3 CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression.
