期刊
INTERNATIONAL JOURNAL OF AUDIOLOGY
卷 47, 期 9, 页码 535-545出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/14992020802249259
关键词
genetics; hearing; connexin 26; neonatal hearing screening
资金
- Oticon Foundation
- Widex AS
Hearing impairment (HI) is the most frequent sensory disorder, with a genetic etiology in 50% of all cases, due to mutations in 44 identified genes. Autosomal recessive inheritance explains the majority, with GJB2 (connexin 26) mutations accounting for 15-50% of paediatric HI. Delayed presentation of HI to 11-60 months in cases of biallelic GJB2 mutations is a concern, necessitating a good audiological follow-up in addition to neonatal hearing screening. Providing a genetic diagnosis in congenital HI has implications for the prognosis, the possible risk of associated medical manifestations, and precise genetic counseling of the family, and should be integrated into the medical examinations done in order to diagnose syndromic features. Large-scale mutation detection methods, such as micro arrays, are promising for wider genetic testing, but few studies on their clinical utility have been published, so far. Limitations of interpretation of genetic test results, combined with significant ethical issues, currently do not justify to institute genetic screening for GJB2 mutations in neonates before a diagnosis of HI is established.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据