Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

• Published in: American journal of human genetics Vol. 105; no. 3; pp. 573 - 587
• Main Authors: Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 05.09.2019; Elsevier
• Subjects: 5′ splice site; abnormal splicing; Adolescent; Adult; Biophysical Phenomena; branchpoint; Child; Female; Humans; Infant; intronic deletion; Introns; Male; Middle Aged; non-coding variant; pathogenic splice variant; Pedigree; pre-mRNA splicing; RNA Splicing; spliceosome assembly; Spliceosomes; branchpoint; 5′ splice site; abnormal splicing; non-coding variant; spliceosome assembly; pathogenic splice variant; intronic deletion; pre-mRNA splicing
• ISSN: 0002-9297; 1537-6605; 1537-6605
• DOI: 10.1016/j.ajhg.2019.07.013

A precise genetic diagnosis is the single most important step for families with genetic disorders to enable personalized and preventative medicine. In addition to genetic variants in coding regions (exons) that can change a protein sequence, abnormal pre-mRNA splicing can be devastating for the enco...