|
|
|
|
| LEADER |
01000naa a22002652 4500 |
| 001 |
NLM313766495 |
| 003 |
DE-627 |
| 005 |
20231225151257.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
231225s2020 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1155/2020/8841522
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1045.xml
|
| 035 |
|
|
|a (DE-627)NLM313766495
|
| 035 |
|
|
|a (NLM)32802038
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Guo, Chang
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
|
| 264 |
|
1 |
|c 2020
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 23.06.2021
|
| 500 |
|
|
|a Date Revised 23.06.2021
|
| 500 |
|
|
|a published: Electronic-eCollection
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2020 Chang Guo et al.
|
| 520 |
|
|
|a Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated with the homozygous c.235delC mutation, paying special attention to asymmetric interaural hearing loss. A total of 244 patients with the GJB2 c.235delC homozygous mutation encountered from 2007 to 2015 were enrolled. The severity of hearing loss was scaled with the American Speech-Language-Hearing Association (ASHA). Auditory phenotypes were analyzed, and three types of interaural asymmetry were defined based on audiograms: Type A (asymmetry of hearing loss severity), Type B (asymmetry of audiogram shape), and Type C (Type A plus Type B). Of the 488 ears (244 cases) examined, 71.93% (351) presented with profound hearing loss, 14.34% (70) with severe hearing loss, and 9.43% (46) with moderate to severe hearing loss. The most common audiogram shapes were descending (31.15%) and flat (24.18%). A total of 156 (63.93%) of the 244 patients exhibited asymmetric interaural hearing loss in terms of severity and/or audiogram shape. Type A was evident in 14 of these cases, Type B in 106, and Type C in 36. In addition, 211 of 312 ears (67.63%) in the interaural hearing asymmetry group showed profound hearing loss, and 59 (18.91%) exhibited severe hearing loss, with the most common audiogram shapes being flat (27.88%) and descending (22.12%). By contrast, in the interaural hearing symmetry group, profound hearing loss was observed in 140 ears (79.55%), and the most common audiograms were descending (46.59%) and residual (21.59%). Hearing loss associated with the GJB2 c.235delC homozygous mutation shows diverse phenotypes, and a considerable proportion of patients show bilateral hearing loss asymmetry
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
| 650 |
|
7 |
|a GJB2 protein, human
|2 NLM
|
| 650 |
|
7 |
|a Connexin 26
|2 NLM
|
| 650 |
|
7 |
|a 127120-53-0
|2 NLM
|
| 700 |
1 |
|
|a Huang, Sha-Sha
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Yuan, Yong-Yi
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Zhou, Ying
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Wang, Ning
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Kang, Dong-Yang
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Yang, Su-Yan
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Zhang, Xin
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Gao, Xue
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Dai, Pu
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Neural plasticity
|d 1998
|g 2020(2020) vom: 07., Seite 8841522
|w (DE-627)NLM098558390
|x 1687-5443
|7 nnns
|
| 773 |
1 |
8 |
|g volume:2020
|g year:2020
|g day:07
|g pages:8841522
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1155/2020/8841522
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_21
|
| 912 |
|
|
|a GBV_ILN_350
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 2020
|j 2020
|b 07
|h 8841522
|