Aberrant mRNA splicing of paired box 4 ( PAX4 ) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9

Aims Paired box 4 (PAX4) mutations cause maturity-onset diabetes of the young, type 9 (MODY9). The molecular defect and alteration of PAX4 function associated with the mutation PAX4 IVS7-1G>A in a family with MODY9 and severe diabetic complications were studied.