Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transcription factor HNF4alpha

The gene encodes a transcription factor, which regulates among others the transcription of HNF1-alpha. When mutated, it causes autosomal dominant MODY1 diabetes and hyperinsulinemic hypoglycemia.

Phenotype

Along with MODY1 the mutation R76W can cause atypical dominant Fanconi syndrome.[Error: Macro 'ref' doesn't exist]

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 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

MODY1 diabetes
HNF4A
Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
ABCC8
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
GCK
Hyperinsulinemic hypoglycemia 4
HADH
Hyperinsulinemic hypoglycemia 5
INSR
Hyperinsulinemic hypoglycemia 6
GLUD1
Hyperinsulinemic hypoglycemia 7
SLC16A1
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Autosomal dominant idiopathic Fanconi syndrome
HNF4A

References:

1.

Stanescu DE et al. (2012) Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A.

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2.

Hamilton AJ et al. (2014) The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

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3.

Eeckhoute J et al. (2001) Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator.

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4.

Barrio R et al. (2002) Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.

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5.

Pearson ER et al. (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

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6.

None (1989) Maturity-onset diabetes of the young (MODY).

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7.

Yamagata K et al. (1996) Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

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8.

Lindner T et al. (1997) Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.

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9.

Furuta H et al. (1997) Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

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10.

Hani EH et al. (1998) A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.

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11.

Møller AM et al. (1999) A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young.

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12.

NCBI article

NCBI 3172 [^]
13.

OMIM.ORG article

Omim 600281 [^]
14.

Orphanet article

Orphanet ID 122455 [^]
15.

Wikipedia article

Wikipedia EN (Hepatocyte_nuclear_factor_4_alpha) [^]
Update: April 29, 2019