Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Case-Control Studies
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Cells, Cultured
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Central Nervous System Diseases / genetics*
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Central Nervous System Diseases / metabolism
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Child
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Child, Preschool
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DNA Mutational Analysis
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Dental Enamel / abnormalities
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Dental Enamel / metabolism
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Diabetes Mellitus, Type 2 / genetics*
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Diabetes Mellitus, Type 2 / metabolism
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Frameshift Mutation
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Gene Expression
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Hepatocyte Nuclear Factor 1-beta / genetics*
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Hepatocyte Nuclear Factor 1-beta / metabolism
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Humans
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Infant
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Kidney Diseases, Cystic / genetics*
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Kidney Diseases, Cystic / metabolism
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Lymphocytes
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Male
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Suppressor of Cytokine Signaling 3 Protein
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Suppressor of Cytokine Signaling Proteins / genetics*
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Suppressor of Cytokine Signaling Proteins / metabolism
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TRPP Cation Channels / genetics*
Substances
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HNF1B protein, human
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SOCS3 protein, human
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Suppressor of Cytokine Signaling 3 Protein
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Suppressor of Cytokine Signaling Proteins
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TRPP Cation Channels
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polycystic kidney disease 2 protein
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Hepatocyte Nuclear Factor 1-beta
Supplementary concepts
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Renal cysts and diabetes syndrome