Oonk Anne M M, Leijendeckers Joop M, Huygen Patrick L M, Schraders Margit, del Campo Miguel, del Castillo Ignacio, Tekin Mustafa, Feenstra Ilse, Beynon Andy J, Kunst Henricus P M, Snik Ad F M, Kremer Hannie, Admiraal Ronald J C, Pennings Ronald J E
1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.
Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008.
Recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Because the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes.
To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families.
All families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ among the families. Vestibular examinations show evidence for vestibular hyporeflexia.
Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes.
最近，OTOG和OTOG1被鉴定为人类耳聋基因。目前，已知仅有四个家系基于这些基因的突变患有常染色体隐性听力损失。由于这两个基因编码的蛋白质（耳胶蛋白和类耳胶蛋白）在内耳的结构和定位极为相似，本研究聚焦于对这些基因的突变所导致的听力损失进行特征描述和比较。
为评估此类听力，对来自四个家系的13名患者进行了一系列广泛的听力测定和前庭检查。
所有家系的听力图均呈现平坦至下降型，伴有轻度至中度感音神经性听力损失。言语识别得分保持良好（>90%）。四个家系的听力损失无显著差异，且心理物理学测试结果在各家族间也无差异。前庭检查显示存在前庭反射减退的证据。
由于耳胶蛋白和类耳胶蛋白定位于盖膜，人们可能预期会出现耳蜗传导性听力损失，正如先前在DFNA13（COL11A2）和DFNA8/12（TECTA）患者中所显示的那样。然而，心理物理学检查结果并不支持这一点。此外，作者得出结论，基于OTOG或OTOG1突变的听力损失之间不存在表型差异。这种表型描述将有助于对由这两个基因中任何一个缺陷引起的听力损失进行咨询。
