Abstract
Usher syndrome is characterized by profound hearing loss and retinal degeneration. A splice-site mutation, 216G→A, in exon 3 of USH1C is associated with Acadian Usher type IC. This mutation was reported to create an in-frame deletion of 39 base pairs (bp), resulting in an unstable transcript. By RT-PCR analysis of 216A and 216G constructs transfected into HeLa cells and also of patient cell lines, we have demonstrated a frame-shift deletion of 35 bp, not 39 bp. Thus, the instability of the USH1C mRNA is explained by the 216G→A out-of-frame splice site mutation.
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This work was supported by grants from the Foundation Fighting Blindness and the Louisiana Board of Regents Health Excellence Fund.
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Lentz, J., Savas, S., Ng, SS. et al. The USH1C 216G→A splice-site mutation results in a 35-base-pair deletion. Hum Genet 116, 225–227 (2005). https://doi.org/10.1007/s00439-004-1217-4
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DOI: https://doi.org/10.1007/s00439-004-1217-4