A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.
A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.
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DOI：
10.1086/302216
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发表时间：
1999
影响因子：
9.8
通讯作者：
A. Lalwani;W. Luxford;A. Mhatre;A. Attaie;E. Wilcox;C. M. Castelein
中科院分区：
文献类型：
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作者：
A. Lalwani;W. Luxford;A. Mhatre;A. Attaie;E. Wilcox;C. M. Castelein
在过去的几十年里，由于现代医学变得更善于控制母婴感染，以及更好地了解导致听力障碍的医源性原因，可归因于遗传因素的听力障碍人口的比例有所增加。目前，多达一半的先天性听力障碍被认为有潜在的遗传成分(Arnos等人。1992年；Brookhoer 1994；Cohen和Gorlin 1995；Fraser 1995)，使遗传性听力障碍(HHI)成为最常见的遗传性人类缺陷之一。据估计，70%的病例发生在∼(Ormerod 1960；Bergstrom 1980；Gulya和Juhlin 1992)。CSD最早是由Scheibe于1892年描述的，通常被称为“Scheibe发育不良”。它影响起源于耳囊下部的结构。因此，耳蜗膜和球囊受到影响，但骨迷路、膜性椭圆囊和半规管正常。由于没有临床上可用的检查来诊断CSD，因此需要对颞骨进行尸检。CSD的组织病理学特征是耳蜗囊中的神经感觉毛细胞及其支持细胞的丢失。耳蜗神经和前庭神经萎缩各不相同，从无到严重不等。Reissner膜和球囊壁通常塌陷。血管纹萎缩，内含异常的高周期酸性席夫阳性物质。耳蜗基底部的病变通常最严重，向顶端逐渐保留正常结构。偶尔会出现内淋巴积水，表明离子和渗透调节紊乱。虽然慢性阻塞性肺病相对常见，但其分子
Over the past several decades, the proportion of the population with hearing impairment attributed to genetic factors has increased as modern medicine has become both more adept at controlling maternal and pediatric infections and better educated about the iatrogenic causes of hearing impairment. At present, as much as one-half of all congenital hearing impairment is considered to have an underlying genetic component (Arnos et al. 1992; Brookhouser 1994; Cohen and Gorlin 1995; Fraser 1995), making hereditary hearing impairment (HHI) one of the most common inherited human deficits.Cochleosaccular degeneration (CSD) is the most common histopathologic finding in cases of profound congenital HHI. It is estimated to occur in∼ 70% of cases (Ormerod 1960; Bergstrom 1980; Gulya and Juhlin 1992). CSD was described first by Scheibe in 1892 and is more commonly known as “Scheibe dysplasia.” It affects structures that are derived from the pars inferior of the otocyst. Thus, the membranous cochlea and saccule are affected, but the osseous labyrinth, the membranous utricle, and the semicircular canals are normal. Because there is no clinically available test to diagnose CSD, postmortem histologic examination of the temporal bone is required. The histopathology of CSD is characterized by a loss of neurosensory hair cells and their supporting cells in the cochleae and sacculae. Cochlear and vestibular nerve atrophy varies and ranges from none to severe. Reissner’s membrane and the saccular wall are typically collapsed. The stria vascularis is atrophic with inclusion of abnormal periodic acid-Schiff–positive material. The pathology in the cochlea is typically most severe in the basal turn, with progressive preservation of normal architecture toward the apex. Occasionally, endolymphatic hydrops is present, indicating a disturbance in ionic and osmotic regulation. Although CSD is relatively common, its molecular