Transcription factor HNF1beta
This transcription factor plays a key role in pancreatic beta cell function and kidney development, so mutations in HNF1B cause maturity-onset diabetes of the young type 5 (MODY5) and kidney abnormalities.
Phenotype
Mutations of the transcription factor HNF1beta result in hereditary diabetes (MODY5), various urogenital malformations, and hypomagnesemia.
Genetests:
Related Diseases:
References:
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Gudmundsson J et al. (2007) Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
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2. |
Menzel R et al. (1998) A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene.
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3. |
Nishigori H et al. (1998) Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
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4. |
Horikawa Y et al. (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
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5. |
Rizzoni G et al. (1982) Familial hypoplastic glomerulocystic kidney. A new entity?
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6. |
Kaplan BS et al. (1989) Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.
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7. |
Abbott C et al. (1990) Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction.
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8. |
Verdeguer F et al. (2010) A mitotic transcriptional switch in polycystic kidney disease.
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9. |
Ma Z et al. (2007) Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.
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10. |
Mefford HC et al. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
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11. |
Carette C et al. (2007) Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.
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12. |
Bach I et al. (1991) Two members of an HNF1 homeoprotein family are expressed in human liver.
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13. |
Bellanné-Chantelot C et al. (2005) Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
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14. |
Harries LW et al. (2005) The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.
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15. |
Edghill EL et al. (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
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16. |
Barbacci E et al. (2004) HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
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17. |
Bellanné-Chantelot C et al. (2004) Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
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18. |
Rebouissou S et al. (2005) Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
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19. |
Kolatsi-Joannou M et al. (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.
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20. |
Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
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21. |
Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
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22. |
Lindner TH et al. (1999) A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
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23. |
Bingham C et al. (2000) Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
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24. |
Wild W et al. (2000) The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos.
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25. |
Bingham C et al. (2001) Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
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26. |
Iwasaki N et al. (2001) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus.
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27. |
Montoli A et al. (2002) Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.
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28. |
Furuta H et al. (2002) Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.
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29. |
Bingham C et al. (2003) Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
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30. |
Maestro MA et al. (2003) Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas.
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31. |
Hiesberger T et al. (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.
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32. |
Yorifuji T et al. (2004) Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
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33. |
Orphanet article
Orphanet ID 158588
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34. |
NCBI article
NCBI 6928
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35. |
OMIM.ORG article
Omim 189907
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36. |
Wikipedia article
Wikipedia EN (HNF1B)
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Update: Aug. 14, 2020