title: The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
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.
authors.affiliation: Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, 70112, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Lentz
authors.forename: Sevtap
authors.initials: S
authors.lastname: Savas
authors.forename: San-San
authors.initials: SS
authors.lastname: Ng
authors.forename: Grace
authors.initials: G
authors.lastname: Athas
authors.forename: Prescott
authors.initials: P
authors.lastname: Deininger
authors.forename: Bronya
authors.initials: B
authors.lastname: Keats
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins; D002460:Cell Line; D003598:Cytoskeletal Proteins; D003638:Deafness / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C118970:USH1C protein, human