A hereditary hearing loss case accompanied by unilateral sudden hearingloss:GJB2 235delC homozygotes related late-onsetmoderate hearing impairment
Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery..
Summary A sporadic,case suffering from sudden hearing loss of left ear accompanied by tinnitus when he visited our hospital in 2015,whose hearing threshold had a fluctuation in recent two year.Mutation screening of GJB2 gene,was carried out on the case and his parents by polymerase chain reaction amplification and Sanger sequencing.Targeted 307 genes capture and next-generation sequencing(NGS) was performed to explore,additional possible genetic codes.GJB2 235delC homozygotes were identified,and NGS showed no other pathogenic,likely pathogenic variations or modifier genes.The overexpression of Connexin30 or the presence of modifier genes may be the possible mechanisms of the late-onset moderate hearing impairment phenotype,and much more cases collection and further in vivo/vitro experiments need to be done to decipher the genetic code.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:30 |
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| Enthalten in: |
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery - 30(2016), 14 vom: 20. Juli, Seite 1136-1138 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Wang, H Y [VerfasserIn] |
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| Links: |
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| Themen: |
127120-53-0 |
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| Anmerkungen: |
Date Completed 19.11.2018 Date Revised 04.12.2021 published: Print Citation Status MEDLINE |
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| doi: |
10.13201/j.issn.1001-1781.2016.14.012 |
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| funding: |
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| PPN (Katalog-ID): |
NLM284440728 |
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| 245 | 1 | 2 | |a A hereditary hearing loss case accompanied by unilateral sudden hearingloss:GJB2 235delC homozygotes related late-onsetmoderate hearing impairment |
| 264 | 1 | |c 2016 | |
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| 500 | |a Date Revised 04.12.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery. | ||
| 520 | |a Summary A sporadic,case suffering from sudden hearing loss of left ear accompanied by tinnitus when he visited our hospital in 2015,whose hearing threshold had a fluctuation in recent two year.Mutation screening of GJB2 gene,was carried out on the case and his parents by polymerase chain reaction amplification and Sanger sequencing.Targeted 307 genes capture and next-generation sequencing(NGS) was performed to explore,additional possible genetic codes.GJB2 235delC homozygotes were identified,and NGS showed no other pathogenic,likely pathogenic variations or modifier genes.The overexpression of Connexin30 or the presence of modifier genes may be the possible mechanisms of the late-onset moderate hearing impairment phenotype,and much more cases collection and further in vivo/vitro experiments need to be done to decipher the genetic code | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a sudden hearing loss | |
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| 700 | 1 | |a Guan, J |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Q J |e verfasserin |4 aut | |
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