Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transkriptionsfaktor HNF1beta

Diese Transkriptionsgfaktor spielt eine entscheidende Rolle bei der Funktion der pankreatischen beta-Zelle und der Nierenentwicklung. Mutationen können zum MODY5 Diabetes und zu Nierenfehlbildungen führen.

Phänotyp

Die Mutationen des Transkriptionsfaktors HNF1beta führen zu einem hereditären Diabetes (MODY5), verschiedenen urogenitalen Fehlbildungen und zur Hypomagnesiämie.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

MODY5 Diabetes
HNF1B
Glomerulozystische Nierenerkrankung mit Hyperurikämie und Isosthenurie
HNF1B
UMOD
Nierenzysten und Diabetes (RCAD)
HNF1B
Nichtpapilläres Nierenzellkarzinom
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL
Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD

Referenzen:

1.

Rebouissou S et al. (2005) Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

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2.

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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3.

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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4.

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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5.

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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6.

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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7.

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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8.

Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

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9.

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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10.

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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11.

Bingham C et al. (2003) Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

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12.

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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13.

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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14.

Bellanné-Chantelot C et al. (2004) Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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15.

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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16.

Barbacci E et al. (2004) HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

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17.

Edghill EL et al. (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

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18.

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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19.

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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20.

Bach I et al. (1991) Two members of an HNF1 homeoprotein family are expressed in human liver.

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21.

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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22.

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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23.

Mefford HC et al. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

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24.

Ma Z et al. (2007) Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.

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25.

Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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26.

Verdeguer F et al. (2010) A mitotic transcriptional switch in polycystic kidney disease.

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27.

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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28.

Kaplan BS et al. (1989) Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.

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29.

Rizzoni G et al. (1982) Familial hypoplastic glomerulocystic kidney. A new entity?

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30.

Horikawa Y et al. (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

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31.

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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32.

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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