Journal of nephrology · 2013
HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.
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Mancusi Silvia, La Manna Angela, Bellini Giulia, Scianguetta Saverio, Roberti Domenico, Casale Maddalena, Rossi Francesca, Della Ragione Fulvio, Perrotta Silverio
Аннотация
BACKGROUND: Maturity onset diabetes of young (MODY) type 5 is a form of non-insulin-dependent diabetes mellitus associated with renal cysts. It is an autosomal dominant disorder caused by mutations in the gene encoding hepatocyte nuclear factor-1β (HNF-1β).
METHODS: We performed molecular screening of HNF-1β in a 13-year-old patient and his affected father, and analyzed polycystic kidney disease 2 (PKD2) gene and suppressor of cytokine signaling 3 (SOCS3) expression in lymphoblastoid cell lines and lymphocytes from both patients.
RESULTS: We found a novel HNF-1β frameshift mutation (c.C1304del) that results in a truncated protein (p.I434IfsX1). The genetic change is localized in the transactivated protein domain.
CONCLUSIONS: We demonstrated that this novel HNF-1β mutation strongly influences the expression of both PKD2, responsible for the formation of the renal cysts, and SOCS3, which is associated with early diabetes onset.
METHODS: We performed molecular screening of HNF-1β in a 13-year-old patient and his affected father, and analyzed polycystic kidney disease 2 (PKD2) gene and suppressor of cytokine signaling 3 (SOCS3) expression in lymphoblastoid cell lines and lymphocytes from both patients.
RESULTS: We found a novel HNF-1β frameshift mutation (c.C1304del) that results in a truncated protein (p.I434IfsX1). The genetic change is localized in the transactivated protein domain.
CONCLUSIONS: We demonstrated that this novel HNF-1β mutation strongly influences the expression of both PKD2, responsible for the formation of the renal cysts, and SOCS3, which is associated with early diabetes onset.
Предметные рубрики MeSH
AdolescentCase-Control StudiesCells, CulturedCentral Nervous System DiseasesChildChild, PreschoolDNA Mutational AnalysisDental EnamelDiabetes Mellitus, Type 2Frameshift MutationGene ExpressionHepatocyte Nuclear Factor 1-betaHumansInfantKidney Diseases, CysticLymphocytesMaleSuppressor of Cytokine Signaling 3 ProteinSuppressor of Cytokine Signaling ProteinsTRPP Cation Channels