Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to audiometrical and histological data previously described in a mouse model of this disease. Pure tone audiometry, speech audiometry, speech in noise, auditory brainstem responses and transiently evoked otoacoustic emissions were measured in 2 patients affected by HDR syndrome. Both patients were affected by a moderate-to-severe sensorineural hearing loss. Speech reception thresholds were shifted and speech recognition in noise was disturbed. No otoacoustic emissions could be generated in either patient. Auditory brainstem response interpeak intervals were normal. The human and murine audiological phenotypes seem to correspond well. Hearing loss in HDR syndrome is moderate to severe, seems to be slightly worse at the higher end of the frequency spectrum and may be progressive with age. The absence of otoacoustic emissions and the loss of frequency selectivity suggest an important role for outer hair cells in causing the hearing loss.

译文

锌指转录因子GATA3的单倍剂量不足会导致甲状旁腺功能低下,耳聋和肾发育不良的三联征,其首字母缩写为HDR综合征。本研究的目的是详细描述人类HDR患者的听觉表型,并将其与先前在该疾病的小鼠模型中描述的听力和组织学数据进行比较。对2例受HDR综合征影响的患者进行了纯音测听,语音测听,噪声语音,听觉脑干反应和短暂诱发的耳声发射。两名患者均受到中度至重度感音神经性听力损失的影响。更改了语音接收阈值,并且干扰了语音中的语音识别。两名患者均不会产生耳声发射。听觉脑干反应高峰间隔是正常的。人和鼠的听觉表型似乎很好地对应。 HDR综合征的听力损失为中度到重度,在频谱的高端似乎略有恶化,并且可能随着年龄的增长而逐渐恶化。耳声发射的缺乏和频率选择性的丧失表明外毛细胞在引起听力损失中起着重要作用。

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