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HNF1B
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Transkriptionsfaktor HNF1beta

Wissenschaftliche Information:

Zusammenfassung: 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.

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

Methodik:

 

Klinische
Diagnostik
Methode Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Arbeitstage
Aufwand gering
Untersuchungsmaterial DNA
Qualitätssicherung Ausschließlich interne Qualitätskontrolle
  Mit dieser Methode werden bekannte sowie auch neue Missense-, Nonsense- und Spleißmutationen entdeckt.

 

Klinische
Diagnostik
Methode Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Arbeitstage
Aufwand gering
Untersuchungsmaterial DNA
Qualitätssicherung Ausschließlich interne Qualitätskontrolle
 

 

Klinische
Diagnostik
Methode Familienuntersuchung
Bearbeitungszeit 5 Arbeitstage
Aufwand gering
Untersuchungsmaterial DNA
Qualitätssicherung Ausschließlich interne Qualitätskontrolle
  Die Untersuchung ist nur für die in dieser Familie bekannte Mutation spezifisch.

Systematische Aufstellung weiterführender Links: 

MODY5 Diabetes
HNF1B
Glomerulozystische Nierenerkrankung mit Hyperurikämie und Isosthenurie
HNF1B
UMOD
Nierenzysten und Diabetes (RCAD)
HNF1B

Literatur: 

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.
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.
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.
Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
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.
Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Abbott C et al. (1990) Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction.
Bach I et al. (1991) Two members of an HNF1 homeoprotein family are expressed in human liver.
Barbacci E et al. (2004) HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
Bellanné-Chantelot C et al. (2004) Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
Bingham C et al. (2001) Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
Bingham C et al. (2000) Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Bingham C et al. (2003) Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
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.
Edghill EL et al. (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
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.
Gudmundsson J et al. (2007) Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.
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.
Hiesberger T et al. (2004) Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.
Horikawa Y et al. (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
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.
Kaplan BS et al. (1989) Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance.
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.
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.
Ma Z et al. (2007) Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.
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.
Mefford HC et al. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
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.
Nishigori H et al. (1998) Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
Rebouissou S et al. (2005) Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.
Rizzoni G et al. (1982) Familial hypoplastic glomerulocystic kidney. A new entity?
Verdeguer F et al. (2010) A mitotic transcriptional switch in polycystic kidney disease.
Wild W et al. (2000) The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos.
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.