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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MODY5 diabetes
HNF1B
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
HNF1B
UMOD
Renal cysts and diabetes (RCAD)
HNF1B
Nonpapillary renal cell carcinoma
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD

References:

1.

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 external link
34.

NCBI article

NCBI 6928 external link
35.

OMIM.ORG article

Omim 189907 external link
36.

Wikipedia article

Wikipedia EN (HNF1B) external link
Update: Aug. 14, 2020
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