2010
DOI: 10.1002/humu.21255
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Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Abstract: ABSTRACT:We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2. Furthermore, the known or predicted effect on mRNA splicing of eight variants was faithfully reproduced in the biopsied sample as measured by nested RT-PCR. These included changes at the canonical acce… Show more

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Cited by 29 publications
(27 citation statements)
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“…Together with published studies from our laboratory, [5][6][7][8]10,11 we provide evidence of a powerful service for patients. A total of 92 patients have received diagnoses, with no ambiguous USH1 genotypes.…”
Section: Diagnostic Approachsupporting
confidence: 54%
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“…Together with published studies from our laboratory, [5][6][7][8]10,11 we provide evidence of a powerful service for patients. A total of 92 patients have received diagnoses, with no ambiguous USH1 genotypes.…”
Section: Diagnostic Approachsupporting
confidence: 54%
“…To these, an additional 18 private variants can be added that were published separately by our group in the course of the creation of USHbases, ex vivo assays and nasal cell transcript studies. 7,8,11 Only a few founder effects have been observed-for example the CDH23 p.Arg1502X mutation in Swedes, 26 PCDH15 p.Arg245X in Ashkenazi Jews, and USH1C c.216GϾA in Acadians 29,30 and Quebecois. 33 As a consequence the Asper chip based on known mutations would have been inefficient and would have solved only 52% of the cases.…”
Section: Diagnostic Approachmentioning
confidence: 95%
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“…Subsequently, Vaché et al [11] provided evidence that splicing mutations occurring in most USH genes can be identified through ex vivo analysis of mRNA from nasal epithelial cells.…”
Section: Introductionmentioning
confidence: 99%