Identification of a new case of hepatocyte nuclear factor-1β mutation with highly varied phenotypes

Excerpt

To the Editor: Mutations in the hepatocyte nuclear factor (HNF)-1β gene cause a rare form of MODY5 [1]. The various phenotypic features found in patients are related to tissues that express HNF-1β, including pancreas, kidney, liver and uterus. As the highest level of expression is in the kidney, a range of developmental abnormalities of the kidney, which may cause non-diabetic renal dysfunction, have been described [2, 3, 4, 5, 6]. Of these, multiple renal cysts are the commonest phenotypic feature. Recently, the apparently distinct hereditary diseases, familial hypoplastic glomerulocystic kidney disease and familial juvenile hyperuricaemic nephropathy (FJHN), were also found to be associated with HNF-1β mutations [3, 4], although there are other established genetic loci for FJHN. Because HNF-1β is expressed from the earliest stages in the development of Wolffian duct in the fetus, mutations may also be associated with hereditary urogenital dysplasia [5, 6]. Thus, it is important to accumulate knowledge from various cases to understand the broad spectrum of clinical features associated with HNF-1β mutation. However, only 13 families with mutations have so far been described, regardless of the presence or absence of diabetes. Here, we present a new case of HNF-1β mutation which has highly varied symptoms. …