Document Detail

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
MedLine Citation:
PMID:  20513143     Owner:  NLM     Status:  MEDLINE    
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 acceptor site, changes within the noncanonical acceptor site and both synonymous and nonsynonymous amino acid changes. This shows that mRNA analysis by this method will help in assessing the pathogenic effect of variants, which is a major problem in the molecular diagnosis of Usher syndrome.
Christel Vaché; Thomas Besnard; Catherine Blanchet; David Baux; Lise Larrieu; Valérie Faugère; Michel Mondain; Christian Hamel; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Related Documents :
21262073 - Aortic stenosis in a patient with hurler's syndrome after bone marrow transplantation.
16403393 - Multiple cutaneous and uterine leiomyomatosis (reed's syndrome).
1388113 - Comparison of assay kits for unconjugated estriol shows that expressing results as mult...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  31     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-31     Completed Date:  2010-09-27     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  734-41     Citation Subset:  IM    
CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Adaptor Proteins, Signal Transducing / genetics
Base Sequence
Cadherins / genetics
Epithelial Cells / metabolism*,  pathology
Extracellular Matrix Proteins / genetics
Gene Expression
Genetic Predisposition to Disease / genetics*
Membrane Proteins / genetics
Molecular Diagnostic Techniques / methods
Myosins / genetics
Nasal Cavity / pathology
Nerve Tissue Proteins / genetics
Protein Isoforms / genetics
RNA Splice Sites / genetics*
RNA Splicing
RNA, Messenger / genetics,  metabolism
Receptors, G-Protein-Coupled / genetics
Reproducibility of Results
Reverse Transcriptase Polymerase Chain Reaction
Sensitivity and Specificity
Usher Syndromes / diagnosis,  genetics*
Reg. No./Substance:
0/Adaptor Proteins, Signal Transducing; 0/CDH23 protein, human; 0/Cadherins; 0/DFNB31 protein, human; 0/Extracellular Matrix Proteins; 0/GPR98 protein, human; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/PCDH15 protein, human; 0/Protein Isoforms; 0/RNA Splice Sites; 0/RNA, Messenger; 0/Receptors, G-Protein-Coupled; 0/USH1C protein, human; 0/USH1G protein, human; 0/USH2A protein, human; EC; EC VIIa
Comment In:
Hum Mutat. 2010 Jun;31(6):v   [PMID:  20513139 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe m...
Next Document:  Proteome analysis reveals new mechanisms of Bcl11b-loss driven apoptosis.