Non-syndromic dominant DFNA1.
Non-syndromic dominant DFNA1.
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非综合征显性 DFNA1。
DOI：
10.1159/000059082
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发表时间：
2000
影响因子：
--
通讯作者：
León,PE
中科院分区：
文献类型：
--
作者：
Lynch,ED;León,PE
就特定的调节和结构基因而言，听觉系统的高度结构复杂性[1-4]必须付出非常高的代价。因此，导致老鼠和人类耳聋的大量不同类型的突变[5-8]。在过去的十年中，40多种非综合征性耳聋以及许多具有复杂表型的耳聋综合征被绘制成地图。大多数非综合征性听力损失是以隐性特征传递的，但许多显性突变也是已知的，因为这些突变很容易通过大家族传播[7]。大多数类型的突变最初会影响听觉标尺的高频，但少数类型的突变会损害发病时的低频[3，5，6]。低频率发作表明，突变首先影响耳蜗尖的毛细胞，向底部旋转离心式推进，并逐渐丧失[3，5]。哥斯达黎加的M家系[9]描述了一种显性、低频、早发性进行性感音神经性耳聋，最初由McKusick[10]和田纳西州的一个家系一起归类为低频听力损失I型(LFHL1，McKusick#124900)。这种M系突变，后来被命名为DFNA1，会导致严重的损失，并且是完全穿透的。田纳西州家族有一种非综合征性进行性丢失，不完全穿透，发病时涉及低频率，进展到所有频率，但从未变得严重。最近，田纳西州家族的突变--命名为DFNA6--被定位在染色体4p16上。3[11]和McKusick(MIM在线)为这两种耳聋分配了不同的类别。本章描述了M家系中的DFNA1突变。在美国和哥斯达黎加研究团队长达十年的努力下，它在1992年被映射到5q31[12]，最近被克隆和测序[13]。
The high degree of structural complexity of the auditory system [1–4] must have a very high price in terms of specific regulatory and structural genes. Hence, the large number of different types of mutations that cause deafness in mice and humans [5–8]. During the last decade more than 40 nonsyndromic deafnesses were mapped, as well as many deafness syndromes with complex phenotypes. Most non-syndromic hearing losses are transmitted as recessive traits, but many dominant mutations are also known, as these can be easily detected spreading through large kindred [7]. Most types of mutations affect initially the high frequencies of the auditory scale, but a few damage the low frequencies at the time of onset [3, 5, 6]. Low frequency onset indicates that the mutation first affects hair cells in the cochlear apex, advancing centrifugally towards the basal turn with progressive loss [3, 5]. A dominant, low frequency, early-onset progressive sensorineural deafness was described in the M-kindred of Costa Rica [9] and initially classified by McKusick [10] along with a family from Tennessee as Low Frequency Hearing Loss I (LFHL1, McKusick# 124900). The M-kindred mutation, later designated DFNA1, leads to severe losses and is fully penetrant. The Tennessee family has a non-syndromic progressive loss, incompletely penetrant, involving the low frequencies at the time of onset, progressing to all frequencies but never becoming severe. Recently the mutation in the Tennessee family-designated DFNA6-has been mapped to chromosome 4p16. 3 [11] and McKusick (MIM on line) has assigned separate categories for these two deafnesses. The DFNA1 mutation in the M-kindred is described in this chapter. It was mapped to 5q31 in 1992 [12] and recently cloned and sequenced [13], in a decade-long effort between US and Costa Rican research teams.
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影响因子：
30.8
作者：
Petit, C
通讯作者：
Petit, C
影响因子：
56.9
作者：
Hall, A
通讯作者：
Hall, A
影响因子：
--
作者：
Lalwani, AK;Jackler, RK;León, PE
通讯作者：
León, PE
影响因子：
56.9
作者：
Lynch, ED;Lee, MK;King, MC
通讯作者：
King, MC
男性低频遗传性耳聋在儿童期发病。
影响因子：
9.8
作者：
P. León;J. Bonilla;Jordi Redondo;R. Vanegas;M. Villalobos;L. Torres;F. León;A. L. Howell;J. A. Rodríguez
通讯作者：
J. A. Rodríguez