Hildebrand Michael S, de Silva Michelle G, Gardner R J McKinlay, Rose Elizabeth, de Graaf Carolyn A, Bahlo Melanie, Dahl Hans-Henrik M
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8.
Nonsyndromic autosomal-dominant, adult-onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997, and the causative gene was subsequently identified as MYH9.
The objective of this study was to report clinical and genetic analyses of an Australian family with nonsyndromic adult-onset sensorineural hearing loss.
The clinical presentation of the family was detailed and identification of the causative gene was conducted by SNP genotyping and direct sequencing.
Sequence analysis of the MYH9 gene revealed the same missense mutation as in the original DFNA17 family. We are not aware of a link between the two kindreds, making the present one only the second DFNA17 family to be reported.
One important point of clinical relevance is the excellent outcome with cochlear implants in the Australian family compared with a "poor" response in the American family. Thus, cochlear implants should be strongly considered for clinical management of patients with DFNA17 deafness.
1997年在一个美国家族中描述了由DFNA17导致的非综合征性常染色体显性成人起病的感音神经性听力损失，随后致病基因被鉴定为MYH9。
本研究的目的是报告一个患有非综合征性成人起病感音神经性听力损失的澳大利亚家族的临床和基因分析。
详细描述了该家族的临床表现，并通过单核苷酸多态性（SNP）基因分型和直接测序进行致病基因鉴定。
MYH9基因的序列分析显示与最初的DFNA17家族相同的错义突变。我们不知道这两个家族之间的联系，这使得本家族成为第二个被报道的DFNA17家族。
一个重要的临床相关点是，与美国家族的“差”反应相比，澳大利亚家族的人工耳蜗植入效果极佳。因此，对于DFNA17耳聋患者的临床管理应强烈考虑人工耳蜗植入。
