Sujjitjoon J et al.(2016) Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9 Acta Diabetol 53: 205-216
[PMID: 25951767]
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Comment
PAX4 IVS7-1G>A caused aberrant mRNA splicing and PAX4 Q250 deletion. The mutation impaired PAX4 repressor functions on target-gene promoters and increased susceptibility to apoptosis upon high glucose exposure. Thus, PAX4 IVS7-1G>A contributes to the pathogenesis of diabetes in this MODY9 family through beta-cell dysfunction. The MODY proband (II-6) and her daughter (III-2) were diagnosed with diabetes aged 44 and 30 years, respectively. Pedigree analysis revealedsevere complications in diabetic family members. Most of the proband’s relatives (II-1, II-2, and II-3) had diabetes, and some of them died of end-stage renal failure. Her youngest sister (II-8) was diagnosed with diabetes at 30 years old and suffered with retinopathy and nephropathy 10 years after her diabetes diagnosis. The proband’s daughter (III-2) was diagnosed with gestational diabetes mellitus (GDM) at 24 years old. At 30 years old, she is still alive with diabetes and requires insulin injection daily but has no signs of diabetic complications.
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