Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome.
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| http://dx.doi.org/10.14309/crj.0000000000001150 | DOI Listing |
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