Literature DB >> 16773579

Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.

Ellen Wilch1, Mei Zhu, Kirk B Burkhart, Martha Regier, Jill L Elfenbein, Rachel A Fisher, Karen H Friderici.   

Abstract

In a large kindred of German descent, we found a novel allele that segregates with deafness when present in trans with the 35delG allele of GJB2. Qualitative polymerase chain reaction-based allele-specific expression assays showed that expression of both GJB2 and GJB6 from the novel allele is dramatically reduced. This is the first evidence of a deafness-associated regulatory mutation of GJB2 and of potential coregulation of GJB2 and GJB6.

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Year:  2006        PMID： 16773579      PMCID： PMC1474119          DOI： 10.1086/505333

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  18 in total

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  26 in total

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