IMR Press / FBL / Volume 13 / Issue 9 / DOI: 10.2741/2924

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Article
Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?
Show Less
1 Heinrich-Heine-University Duesseldorf, Institute for Virology, D-40225 Duesseldorf, Germany
2 Result GmbH, Friedenstrasse 39, D-40219 Duesseldorf, Germany
3 Heinrich-Heine-University Duesseldorf, Dept. of Obstetrics and Gynecology, D-40225 Duesseldorf, Germany
4 Heinrich-Heine-University, Duesseldorf, Center for Biological and Medical Research (BMFZ), Germany

*Author to whom correspondence should be addressed.

 

Front. Biosci. (Landmark Ed) 2008, 13(9), 3252–3272; https://doi.org/10.2741/2924
Published: 1 May 2008
Abstract

Pathogenic splicing alterations caused by point mutations in both splice sites and auxiliary cis-regulatory elements are increasingly recognized as an important mechanism through which gene mutations cause human disease. Unfortunately, in routine genetic diagnostic settings, splicing mutations may escape identification, due to the lack of RNA samples. Since most patients are genotyped only, any computational prediction of mutation effects on splicing can be beneficial for the human geneticist. Here, we review common techniques to identify human point mutations and delineate the molecular basis for splice site recognition. Moreover, this article provides basic insights into web-tools predicting splice sites and cis-regulatory elements and discusses their benefits for judgment of clinically identified sequence variants of disease-specific genes.

Share
Back to top