Rehm Heidi L
Department of Pathology, Brigham & Women's Hospital, and Laboratory for Molecular Medicine, Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, MA, USA.
Semin Perinatol. 2005 Jun;29(3):173-81. doi: 10.1053/j.semperi.2004.12.002.
This article presents an overview of current topics related to the genetics of hearing loss. The review focuses on the approach toward a child with a sensorineural hearing loss of unknown etiology and the incorporation of genetic testing into the workup. Nongenetic causes of hearing loss are reviewed, as they are important in the differential diagnosis when considering a genetic basis for a child's hearing loss. The implications of universal newborn hearing screening and its implementation in many states are also addressed. Furthermore, important factors involved in the clinical diagnosis of the etiology of hearing loss, as well as factors relating to intervention and management of children with hearing loss are discussed. Finally, this review will consider genetic counseling for hearing loss and some of the issues important to the Deaf community.
本文概述了与听力损失遗传学相关的当前主题。该综述重点关注针对病因不明的感音神经性听力损失儿童的诊断方法以及基因检测在检查过程中的应用。还对听力损失的非遗传原因进行了综述，因为在考虑儿童听力损失的遗传基础时，它们在鉴别诊断中很重要。此外，还讨论了普遍新生儿听力筛查的意义及其在许多州的实施情况。此外，还探讨了听力损失病因临床诊断中涉及的重要因素，以及与听力损失儿童干预和管理相关的因素。最后，本综述将考虑听力损失的遗传咨询以及对聋人社区重要的一些问题。
