mRNA Splicing AberrationsComments
parentGenetic disease
siblingsAndrogen InsensitivityBalanced RearrangementCancer geneticsChromosome Number AbnormalitiesCystic FibrosisDown SyndromeDuchenne Muscular DystrophyFragile X SyndromeHemoglobinopathyHuntington DiseaseHurler SyndromeHyperphenylalaninemiaNondisjunctionPenis-At-Twelve SyndromeRelative RiskSickle Cell DiseaseSpinal Muscular AtrophyTay-Sachs DiseaseThalassemiaTriplet Repeat ExpansionsTrisomy 13Trisomy 18Unbalanced RearrangementUniparental Disomy

mRNA Splicing Aberrations

Nearly all disease genes have mutant alleles which affect splicing of the mRNA, rather than protein coding. Exon skipping can arise via mutations in the 5' splice site, the 3' splice site, and/or exonic or intronic splicing enhancers. Activation of cryptic splice sites (thus shortening the exon) can arise via mutated exonic splicing enhancers. Examples of diseases due to mRNA splicing errors include Familial Isolated Growth Hormone Deficiency (mutations in the GH-1 gene), Cystic Fibrosis (mutations in the CFTR gene), Spinal Muscular Atrophy and some thalassemias (mutations in the β-globin gene that activate a cryptic 3' splice site).