Y-连锁遗传性耳聋:中国一大家系的听力学表型特征

目的进行Y-连锁遗传性耳聋(DFNY1)家系的听力学表型特征分析.方法对DFNY1家系中的50名成员进行的听力学检查,包括Madsen 502便携式听力计(丹麦),EAR-3A插入式耳机(美国)进行家系成员的纯音测听检查;Madsen901(丹麦)声导抗检测仪进行鼓室图及镫骨肌反射的检测;便携式听性脑干诱发电位仪(SmartEPIntelligent Hearing Systems,America.)进行听性脑干诱发电位检测.家系的表型特征根据听力损失的程度定义为耳聋和非耳聋.结果接受听力检测的50名家系成员中发现耳聋患者21名,其中20名为家系中的直系男性,1名为女性.发病年龄在7-27岁之间,平均为12.7岁;67%耳聋患者的听力曲线表现为高频下降型曲线,听力曲线的结构具有相似性.结论本文报道了中国DFNY1耳聋大家系的耳聋患者听力学表型特征为双侧、对称性、学语后的感音神经性听力损失,家系中耳聋患者的听力表型具有均一性,这些特征进一步说明DFNY1家系的致聋基因为单一致病基因.

The Audiologic aspects in Chinese Y-linked hereditary hearing impairment pedigree

Objective The purpose of this research was to analyze the audiologic aspects in Chinese Y-linked hereditary hearing impairment pedigree. Methods Fifty members of the DFNY1 family served as subjects for the study. The audiometric evaluations of proband and other members of this family were performed,including pure-tone audiometry (Madsen 502, Denmark), EAR-3A insert earphones (USA), tympanometry and acoustic reflex using Madsen 901 (Denmark), and auditory brainstem responses (ABRs) using SmartEP (USA). Hearing loss is the phenotype for describing the affected and the unaffected in the pedigree.Results 21 of the 50 available subjects were diagnosed as hearing impairment including 20 patrilineal relatives and 1 female. The age of onset ranged from 7-27 years old with the average years of 12.7. The audiometric configuration showed as high frequency,a gently sloping in 67% of the patients as well as similar in the configurations. Conclusions The hearing loss in Y-linked pattern demonstrated by the Chinese pedigree is a form of nonsyndromic, late-onset, bilateral, symmetrical,postlingual and sensorineural hearing loss. The phenotypes exhibited coincident in the audiometric configuration which may strongly imply the putative major gene contribute to the DFNY1 family.