Abreu GM et al.(2020) Identification of the First PAX4-MODY Family Reported in Brazil Diabetes Metab Syndr Obes 13: 2623-2631
[PMID: 32801813]
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The aim of this study was to sequence the coding region of the PAX4 gene in a Brazilian cohort with clinical manifestations of monogenic diabetes. The study included 31 patients with autosomal dominant history of diabetes, age at diagnosis <40 years, BMI <30 kg/m2, and no mutations in GCK or HNF1A, HNF4A, and HNF1B. PAX4-MODY family members and 158 control subjects without diabetes were analyzed for the identified mutation. The molecular analysis of PAX4 has detected one missense mutation, p.Arg164Gln (c.491G>A), segregating with diabetes in a large Brazilian family. The mutation was absent among the control group. The index case is a woman diagnosed at 32 years of age with polyneuropathy and treated with insulin. She did not present diabetic renal disease or retinopathy. Family members with the PAX4 p.Arg164Gln mutation have a heterogeneous clinical manifestation and treatment response, with age at diagnosis ranging from 24 years to 50 years. The age of PAX4-MODY diagnosis in the Brazilian family seems to be higher than the classical criteria for MODY.
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