ABCC8 variants in MODY12:review of the literature and report
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More than 1000 variants of the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene have been reported in neonatal diabetes mellitus. Up to now only 55 ABCC8 variants were associated with Maturity-Onset Diabetes of the Young 12 (MODY12). Authors present a c.3544>T p.(Arg1182Trp) ABCC8 variant in a 35-year old women who had pronounced microvascular diabetic complications and a charcot artropathy necessitating a lower limb amputation.

The unusual severity of the disease course prompted us to perform a systematic review of all genetic variants in MODY12. The present mutation has mostly been associated with neonatal diabetes and in only 3 papers reporting a MODY12. The 55 MODY12 variants show a large clinical heterogeneity, even in relatives with the same mutation, ranging from mild impaired glucose tolerance to severe insulin-dependent diabetes mellitus. HbA1c at diagnosis ranged from 5-14% and age at diagnosis ranged from 2-53 years.

Several case reports however lack documentation of diabetic complications. Hence, more detailed reports remain necessary to improve insight in MODY12 pathophysiology and outcome. We reviewed current data regarding therapeutic management and discuss key points to consider for the individual patient.

In conclusion, considering the diagnosis of MODY and genetic testing in certain patients is of importance, as it can guide therapeutic decisions.

Source: https://onlinelibrary.wiley.com/doi/10.1002/dmrr.3459?af=R
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