发明名称 |
A MUTATION IN THE REGULATORY REGION OF GJB2 MEDIATES NEONATAL HEARING LOSS WITHIN DFNB1 |
摘要 |
Homozygous alterations in the gap junction protein GJB2 (connexin 26), within the DFNB1 locus, are responsible for up to 50% of autosomal recessive non-syndromic hearing impairment (NSHI). Analysis of the GJB2 promoter revealed the potential importance of T-228C in the regulation of GJB2 expression. Of regulatory factors known to be expressed in the inner ear, the T-228C transition would delete potential binding sites for the X-box binding protein (RFX1) and the H6 homeobox 3 (HMX3/Nk×5.1) transcription factor which has been linked to hearing impairment. These results suggest that T-228C may represent the most common mutation associated with development of NSHI in Caucasian populations identified to date and should be included in worldwide newborn screening programs for NSHI. |
申请公布号 |
EP2245185(B1) |
申请公布日期 |
2014.04.30 |
申请号 |
EP20090712932 |
申请日期 |
2009.02.19 |
申请人 |
MED-EL ELEKTROMEDIZINISCHE GERAETE GMBH |
发明人 |
LUCAS, TREVOR;FREI, KLEMENS;BAUMGARTNER, WOLF-DIETER |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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地址 |
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