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.

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.
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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.
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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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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.
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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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