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Center for Nephrology and Metabolic Disorders
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alpha-ketoglutarate-dependent dioxygenase FTO

The exact physiological function of the enzyme encoded by the FTO gene is yet unknown. Genetic alterations cause obesity type 14 and growth and developmental delay with facial dysmorphisms

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Growth retardation with developmental delay and facial dysmorphism
FTO
BMI effecting trait 14
FTO

References:

1.

Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

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2.

Church C et al. (2010) Overexpression of Fto leads to increased food intake and results in obesity.

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3.

Han Z et al. (2010) Crystal structure of the FTO protein reveals basis for its substrate specificity.

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4.

Fischer J et al. (2009) Inactivation of the Fto gene protects from obesity.

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5.

Gerken T et al. (2007) The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.

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6.

Peters T et al. (1999) Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation.

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7.

van der Hoeven F et al. (1994) Programmed cell death is affected in the novel mouse mutant Fused toes (Ft).

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8.

Claussnitzer M et al. (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.

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9.

Dina C et al. (2007) Variation in FTO contributes to childhood obesity and severe adult obesity.

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10.

Frayling TM et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

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11.

Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

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12.

Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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13.

Meyre D et al. (2009) Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

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14.

Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

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15.

Orphanet article

Orphanet ID 212927 external link
16.

NCBI article

NCBI 79068 external link
17.

OMIM.ORG article

Omim 610966 external link
18.

Wikipedia article

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