一种常染色体显性遗传性听力障碍（DFNA14）的基因定位于4号染色体p16.3区域，该区域与DFNA6位点不重叠。
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.
作者信息
Van Camp G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H, Verstreken M, Bespalova I N, Burmeister M, Van de Heyning P H, Smith R J, Willems P J, Cremers C W, Lesperance M M
机构信息
Department of Medical Genetics, University of Antwerp, Belgium.
出版信息
J Med Genet. 1999 Jul;36(7):532-6.
Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.
非综合征性听力障碍是最具异质性的遗传性疾病之一，已报道的基因定位超过40个。我们发现了一个患有常染色体显性非综合征性感音神经性听力障碍的大型荷兰家族。在大多数患者中，听力障碍始于生命的第一个或第二个十年，在随后的几十年中缓慢下降，但未发展到重度耳聋。听力损失是双侧对称的，仅影响高达2000Hz的低频和中频。鉴于该家族与一个与4p16.3染色体（DFNA6）相关的美国家族在表型上相似，我们研究了与DFNA6区域的连锁关系。连锁分析计算证实与该区域连锁，两点连锁分析分数高于6。然而，由于单倍型分析表明该家族的基因缺陷位于一个5.6cM的候选区域，该区域与DFNA6区域不重叠，因此新的基因座被命名为DFNA14。
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