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Hum Genet. 2005 Feb;116(3):225-7. Epub 2004 Dec 1.

The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.

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1
Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, 70112, USA.

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.

PMID:
15578223
DOI:
10.1007/s00439-004-1217-4
[Indexed for MEDLINE]
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